ClinVar Genomic variation as it relates to human health
NM_000080.4(CHRNE):c.1327del
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000080.4(CHRNE):c.1327del
Variation ID: 243031 Accession: VCV000243031.57
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 17p13.2 17: 4898891 (GRCh38) [ NCBI UCSC ] 17: 4802186 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Jul 20, 2016 Aug 4, 2024 Mar 24, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000080.4:c.1327del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NM_000080.4:c.1327delG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NC_000017.11:g.4898892del NC_000017.10:g.4802187del NG_008029.2:g.9185del NG_028005.1:g.70553del LRG_1254:g.9185del LRG_1254t1:c.1327del NP_000071.1:p.Glu443LysfsTer64 - Protein change
- Other names
- epsilon1267delG
- e1267delG
- Canonical SPDI
- NC_000017.11:4898890:CC:C
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- Unknown function
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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C17orf107 | - | - | - |
GRCh38 GRCh37 |
- | 774 |
CHRNE | - | - |
GRCh38 GRCh37 |
345 | 1329 | |
MINK1 | - | - |
GRCh38 GRCh37 |
74 | 130 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Oct 25, 2017 | RCV000020022.40 | |
Pathogenic (2) |
no assertion criteria provided
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Sep 16, 2020 | RCV000235026.6 | |
Pathogenic (5) |
criteria provided, multiple submitters, no conflicts
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Nov 10, 2021 | RCV000516854.30 | |
Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
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Mar 24, 2024 | RCV000556621.19 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2023 | RCV001169937.7 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV001835737.2 | |
Pathogenic (1) |
criteria provided, single submitter
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- | RCV003338479.3 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Dec 30, 2016)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Athena Diagnostics
Accession: SCV000612746.2
First in ClinVar: Dec 19, 2017 Last updated: Apr 02, 2018 |
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Pathogenic
(Oct 25, 2017)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4C
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
Accession: SCV000680173.2
First in ClinVar: Feb 08, 2018 Last updated: Feb 08, 2018 |
Observation 1:
Sex: female
Tissue: blood
Observation 2:
Sex: female
Tissue: blood
Observation 3:
Sex: female
Tissue: blood
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Pathogenic
(May 03, 2020)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4B
Affected status: yes
Allele origin:
unknown
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Genomic Research Center, Shahid Beheshti University of Medical Sciences
Accession: SCV001251718.1
First in ClinVar: May 31, 2020 Last updated: May 31, 2020 |
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Pathogenic
(Sep 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4C
(Autosomal unknown)
Affected status: yes
Allele origin:
germline
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Baylor Genetics
Accession: SCV000807240.2
First in ClinVar: Feb 08, 2018 Last updated: Dec 11, 2022 |
Comment:
This mutation has been previously reported as disease-causing and was found twice in our laboratory in a homozygous state in individuals with myasthenia. One was … (more)
This mutation has been previously reported as disease-causing and was found twice in our laboratory in a homozygous state in individuals with myasthenia. One was as 8-year-old male with congenital myasthenia, with a similarly affected sister (not tested); other was a 15-year-old female with myasthenia gravis, mild intellectual disability. (less)
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Pathogenic
(Nov 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000709960.5
First in ClinVar: Apr 02, 2018 Last updated: Mar 04, 2023 |
Comment:
Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 51 amino acids are lost and replaced with 63 incorrect amino … (more)
Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 51 amino acids are lost and replaced with 63 incorrect amino acids; This variant is associated with the following publications: (PMID: 10514102, 10496269, 15367858, 15322984, 10534268, 9668239, 27634344, 28464723, 29056292, 29054425, 30369941, 31589614, 33193787, 34426522, 34008892, 32070632, 31407473) (less)
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Pathogenic
(Nov 25, 2023)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000641247.9
First in ClinVar: Dec 26, 2017 Last updated: Feb 20, 2024 |
Comment:
This sequence change results in a frameshift in the CHRNE gene (p.Glu443Lysfs*64). While this is not anticipated to result in nonsense mediated decay, it is … (more)
This sequence change results in a frameshift in the CHRNE gene (p.Glu443Lysfs*64). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the CHRNE protein and extend the protein by 12 additional amino acid residues. This variant is present in population databases (rs763258280, gnomAD 0.09%). This frameshift has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (PMID: 9668239, 10496269, 10514102, 10534268, 27634344). It is commonly reported in individuals of Roma ancestry (PMID: 15322984, 15367858). This variant is also known as c.1267delG. ClinVar contains an entry for this variant (Variation ID: 243031). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this frameshift affects CHRNE function (PMID: 10514102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001249976.24
First in ClinVar: May 12, 2020 Last updated: Aug 04, 2024 |
Number of individuals with the variant: 8
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
Congenital myasthenic syndrome 4B Congenital myasthenic syndrome 4C (Autosomal recessive inheritance)
Affected status: yes
Allele origin:
inherited
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Suma Genomics
Accession: SCV002097026.1
First in ClinVar: Feb 13, 2022 Last updated: Feb 13, 2022 |
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Pathogenic
(Feb 07, 2022)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV002569381.1
First in ClinVar: Sep 17, 2022 Last updated: Sep 17, 2022 |
Comment:
A homozygous single base pair deletion c.1267delG in exon 12 of the CHRNE gene that results in a frameshift and premature truncation of the protein … (more)
A homozygous single base pair deletion c.1267delG in exon 12 of the CHRNE gene that results in a frameshift and premature truncation of the protein 64 amino acids downstream to codon 443 (p.Glu443LysfsTer64) was detected. The observed variation (c.1267delG) has previously been reported in patients affected with congenital myasthenic syndrome and the variant has been classified as pathogenic by ClinVar database. This variant has not been reported in the 1000 genomes database and has a minor allele frequency of 0.15% in the gnomAD . The reference region is conserved across species. (less)
Clinical Features:
Ptosis (present) , Dysarthria (present)
Age: 30-39 years
Sex: female
Method: DNA was used to perform targeted gene capture using a custom capture kit. Libraries were sequenced to mean >80-100X coverage on the Illumina sequencing platform. Sequence obtained were aligned to human references genome using BWA program and analyzed using Picard and GATK-Lite toolkit to identify variants in the targeted genes relevant to clinical indication.
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Pathogenic
(Feb 23, 2023)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4B
Affected status: yes
Allele origin:
unknown
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3billion
Accession: SCV003841633.1
First in ClinVar: Mar 18, 2023 Last updated: Mar 18, 2023 |
Comment:
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.013%). This variant was predicted to result in … (more)
The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.013%). This variant was predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by more than 10%. Multiple pathogenic variants are reported downstream of the variant. This homozygous variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000243031 / PMID: 9668239). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. (less)
Clinical Features:
Weakness of facial musculature (present) , Ophthalmoplegia (present)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4C
Affected status: yes
Allele origin:
biparental
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Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
Accession: SCV004023365.1
First in ClinVar: Aug 13, 2023 Last updated: Aug 13, 2023 |
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 1A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004047730.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The frameshift variant c.1327del (p.Glu443LysfsTer64) in CHRNE gene has been reported to segregate with autosomal recessive congenital myasthenic syndrome (CMS) in many families (Natera-de Benito … (more)
The frameshift variant c.1327del (p.Glu443LysfsTer64) in CHRNE gene has been reported to segregate with autosomal recessive congenital myasthenic syndrome (CMS) in many families (Natera-de Benito D et.al.,2016). It is a common cause of autosomal recessive CMS in several populations, and has been reported to be a founder mutation in the Roma population (Hantaï D et.al.,2004).This variant has been reported to the ClinVar database as Pathogenic. The p.Glu443LysfsTer64 variant is reported with the allele frequency 0.01276% in gnomAD exomes and novel in 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 443, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Glu443LysfsTer64. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic (less)
Clinical Features:
Abnormal synaptic transmission at the neuromuscular junction (present) , Muscle weakness (present)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004048044.1
First in ClinVar: Oct 28, 2023 Last updated: Oct 28, 2023 |
Comment:
The frameshift variant c.1327del(p.Glu443LysfsTer64) in CHRNE gene has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (Natera-de Benito D et.al.,2016). Experimental studies have … (more)
The frameshift variant c.1327del(p.Glu443LysfsTer64) in CHRNE gene has been observed in individual(s) with autosomal recessive congenital myasthenic syndrome (Natera-de Benito D et.al.,2016). Experimental studies have shown that this frameshift affects CHRNE function (Yang Y et.al.,2014). This variant has been reported to the ClinVar database as Pathogenic. The p.Glu443LysfsTer64 variant is reported with allele frequency of 0.01% in gnomAD exomes and novel in 1000 Genomes. This variant causes a frameshift starting with codon Glutamic Acid 443, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Glu443LysfsTer64. This variant is predicted to cause loss of normal protein function. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Fatigable weakness (present) , Ptosis (present) , Fatigable weakness (present)
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Pathogenic
(-)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4C
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004101549.1
First in ClinVar: Nov 11, 2023 Last updated: Nov 11, 2023 |
Comment:
The frame shift c.1327del (p.Glu443LysfsTer64) variant in CHRNE gene has been reported previously in homozygous state associated with congenital myasthenia syndrome. This variant has been … (more)
The frame shift c.1327del (p.Glu443LysfsTer64) variant in CHRNE gene has been reported previously in homozygous state associated with congenital myasthenia syndrome. This variant has been reported to segregate with autosomal recessive congenital myasthenic syndrome (CMS) in many families. This variant is predicted to cause loss of normal protein function, as the last 51 amino acids are lost and replaced with 63 incorrect amino acids (Croxen, R et al, Natera-de Benito, D et al.). This variant is reported with the allele frequency 0.01% in the gnomAD and novel in 1000 genome database. This variant has been reported to the ClinVar database as Pathogenic. This variant causes a frameshift starting with codon Glutamic Acid 443, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Glu443LysfsTer64. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. (less)
Clinical Features:
Abnormal synaptic transmission at the neuromuscular junction (present) , Muscle weakness (present)
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Pathogenic
(Nov 30, 2023)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
Accession: SCV004171251.1
First in ClinVar: Dec 02, 2023 Last updated: Dec 02, 2023 |
Clinical Features:
Hypomimic face (present) , Myopathy (present) , Muscular dystrophy (present) , Proximal muscle weakness (present)
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Pathogenic
(Mar 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4B
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
|
Neuberg Centre For Genomic Medicine, NCGM
Accession: SCV004176607.1
First in ClinVar: Dec 17, 2023 Last updated: Dec 17, 2023 |
Comment:
The frame shift c.1327del (p.Glu443LysfsTer64) variant has been reported in homozygous and compound heterozygous state in individuals affected with affected with Congenital Myasthenic Syndrome (Parvizi … (more)
The frame shift c.1327del (p.Glu443LysfsTer64) variant has been reported in homozygous and compound heterozygous state in individuals affected with affected with Congenital Myasthenic Syndrome (Parvizi Omran S et al. 2019; Durmus H et al. 2018). Experimental studies have shown that this frameshift affects CHRNE function (Croxen R et al. 1999). The p.Glu443LysfsTer64 variant has allele frequency 0.01% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic (multiple submiters). This variant causes a frameshift starting with codon Glutamic Acid 443, changes this amino acid to Lysine residue, and creates a premature Stop codon at position 64 of the new reading frame, denoted p.Glu443LysfsTer64. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Mar 24, 2024)
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criteria provided, single submitter
Method: clinical testing
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Congenital myasthenic syndrome 4A
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004212564.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
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Pathogenic
(Oct 01, 2004)
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no assertion criteria provided
Method: literature only
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MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000040320.3
First in ClinVar: Apr 04, 2013 Last updated: Aug 22, 2016 |
Comment on evidence:
In 13 patients from 11 Gypsy families with congenital myasthenic syndrome-4C associated with AChR deficiency (CMS4C; 608931), Abicht et al. (1999) identified a homozygous 1-bp … (more)
In 13 patients from 11 Gypsy families with congenital myasthenic syndrome-4C associated with AChR deficiency (CMS4C; 608931), Abicht et al. (1999) identified a homozygous 1-bp deletion in exon 12 of the CHRNE gene (c.1267delG). All families were of Gypsy or southeastern European origin. Genotype analysis indicated that they derived from a common ancestor. In patients from India and Pakistan with CMS and AChR deficiency, Croxen et al. (1999) identified the 1267delG mutation in exon 12 of the CHRNE gene. Middleton et al. (1999) identified a homozygous c.1267delG mutation in affected members of 5 families with CMS4C previously reported by Christodoulou et al. (1997). Four of the families were of Gypsy descent. Morar et al. (2004) used the 1267delG mutation and 4 other private mutations among the Roma (Gypsies) to infer some of the missing parameters relevant to the comprehensive characterization of the population history of the Gypsies. Sharing of mutations and high carrier rates supported a strong founder effect. The identity of the congenital myasthenia 1267delG mutation in Gypsy and Indian/Pakistani chromosomes provided strong evidence for the Indian origins of the Gypsies. Hantai et al. (2004) reported a carrier rate of 3.74% for the 1267delG mutation in these ethnic groups. (less)
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Congenital myasthenic syndrome
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001453122.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, Amsterdam University Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002035189.1 First in ClinVar: Dec 18, 2021 Last updated: Dec 18, 2021 |
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Pathogenic
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV002038349.1 First in ClinVar: Dec 21, 2021 Last updated: Dec 21, 2021 |
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Pathogenic
(Oct 30, 2023)
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no assertion criteria provided
Method: clinical testing
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Congenital myasthenic syndrome 4A
Affected status: yes
Allele origin:
germline
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Zotz-Klimas Genetics Lab, MVZ Zotz Klimas
Accession: SCV004099478.1
First in ClinVar: Nov 04, 2023 Last updated: Nov 04, 2023 |
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not provided
(-)
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no classification provided
Method: literature only
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Congenital myasthenic syndrome
Affected status: yes
Allele origin:
germline
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GeneReviews
Accession: SCV000292398.2
First in ClinVar: Jul 20, 2016 Last updated: Oct 01, 2022
Comment:
Variant of a regulatory element (N-box) in the AChRε promoter region resulting in reduced gene expression.
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Germline Functional Evidence
Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Unknown function
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Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV002569381.1
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Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Congenital Myasthenic Syndromes Overview. | Adam MP | - | 2021 | PMID: 20301347 |
Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. | Krenn M | European journal of neurology | 2020 | DOI: 10.1111/ene.14033 |
Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. | Natera-de Benito D | Neuromuscular disorders : NMD | 2016 | PMID: 27634344 |
Congenital myasthenic syndromes. | Hantaï D | Current opinion in neurology | 2004 | PMID: 15367858 |
Mutation history of the roma/gypsies. | Morar B | American journal of human genetics | 2004 | PMID: 15322984 |
A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. | Abicht A | Neurology | 1999 | PMID: 10534268 |
Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. | Croxen R | Annals of neurology | 1999 | PMID: 10514102 |
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene. | Middleton L | Neurology | 1999 | PMID: 10496269 |
A single nucleotide deletion in the epsilon subunit of the acetylcholine receptor (AChR) in five congenital myasthenic syndrome patients with AChR deficiency. | Croxen R | Annals of the New York Academy of Sciences | 1998 | PMID: 9668239 |
Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. | Christodoulou K | Human molecular genetics | 1997 | PMID: 9097970 |
Text-mined citations for rs763258280 ...
HelpRecord last updated Aug 04, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.