ClinVar Genomic variation as it relates to human health
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
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_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
Variation ID: 4200 Accession: VCV000004200.50
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q21.11 8: 74364005 (GRCh38) [ NCBI UCSC ] 8: 75276240 (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 May 3, 2013 May 1, 2024 Mar 1, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_018972.4:c.715C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_061845.2:p.Leu239Phe missense NM_001040875.4:c.511C>T NP_001035808.1:p.Leu171Phe missense NM_001362929.2:c.388C>T NP_001349858.1:p.Leu130Phe missense NM_001362930.2:c.541C>T NP_001349859.1:p.Leu181Phe missense NM_001362931.2:c.694+952C>T intron variant NM_001362932.2:c.388C>T NP_001349861.1:p.Leu130Phe missense NC_000008.11:g.74364005C>T NC_000008.10:g.75276240C>T NG_008787.3:g.47876C>T LRG_244:g.47876C>T LRG_244t1:c.715C>T - Protein change
- L239F, L181F, L171F, L130F
- Other names
- -
- Canonical SPDI
- NC_000008.11:74364004:C:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00008
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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GDAP1 | - | - |
GRCh38 GRCh37 |
495 | 589 |
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 (2) |
no assertion criteria provided
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Apr 25, 2018 | RCV000004420.4 | |
Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Dec 28, 2023 | RCV000034153.13 | |
Conflicting interpretations of pathogenicity (3) |
no assertion criteria provided
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Mar 1, 2022 | RCV000033147.9 | |
Pathogenic (1) |
criteria provided, single submitter
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Nov 2, 2015 | RCV000414821.3 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Mar 1, 2024 | RCV000439841.21 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 20, 2018 | RCV000779562.5 | |
Uncertain significance (2) |
no assertion criteria provided
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- | RCV000789780.5 | |
Pathogenic (1) |
criteria provided, single submitter
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Sep 14, 2023 | RCV002362562.3 | |
Pathogenic (1) |
criteria provided, single submitter
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Jan 3, 2022 | RCV002496254.2 |
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
(Mar 01, 2024)
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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: SCV001249598.20
First in ClinVar: May 12, 2020 Last updated: Apr 15, 2024 |
Comment:
GDAP1: PM3:Very Strong, PP1:Strong, PM1, PM2
Number of individuals with the variant: 5
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Pathogenic
(Nov 02, 2015)
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criteria provided, single submitter
Method: clinical testing
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Elevated circulating alkaline phosphatase concentration
Elevated circulating creatine kinase concentration Peripheral axonal neuropathy Polyneuropathy Sensory neuropathy
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV000492715.1
First in ClinVar: Jan 13, 2017 Last updated: Jan 13, 2017 |
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Pathogenic
(Sep 20, 2018)
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criteria provided, single submitter
Method: clinical testing
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GDAP1-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000916236.1
First in ClinVar: May 27, 2019 Last updated: May 27, 2019 |
Comment:
The GDAP1 c.715C>T (p.Leu239Phe) missense variant has been reported in at least six studies and is found in a total of 21 probands with autosomal … (more)
The GDAP1 c.715C>T (p.Leu239Phe) missense variant has been reported in at least six studies and is found in a total of 21 probands with autosomal recessive Charcot-Marie-Tooth disease (CMT), including five in a homozygous state, 15 in a compound heterozygous state, and one in a heterozygous state without a second variant identified (Ammar et al. 2003, Kabzinska et al. 2003, Barankova et al. 2007, Auer-Grumbach et al. 2008, Moroni et al. 2009, Kabzinska et al. 2010). Ammar et al. (2003) identified the c.715C>T (p.Leu239Phe) variant in a compound heterozygous state with a frameshift variant in two siblings with CMT. Their unaffected mother carried the p.Leu239Phe variant and their unaffected father carried the frameshift variant. The p.Leu239Phe variant was absent from 158 controls and is reported at a frequency of 0.000071 in the European (non-Finnish) population of the Genome Aggregation Database. Haplotype analysis suggests that the p.Leu239Phe variant is likely a founder mutation in the central and eastern European population (Kabzinska et al. 2010). Based on the collective evidence, the p.Leu239Phe variant classified as pathogenic for GDAP1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
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Pathogenic
(Jan 01, 2016)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 4A
Affected status: yes
Allele origin:
unknown
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Centre for Mendelian Genomics, University Medical Centre Ljubljana
Accession: SCV001369976.2
First in ClinVar: Jul 04, 2020 Last updated: Dec 12, 2020 |
Comment:
This variant was classified as: Pathogenic. This variant was detected in homozygous state.
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Likely pathogenic
(Sep 08, 2021)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 4A
Affected status: yes
Allele origin:
germline
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MGZ Medical Genetics Center
Accession: SCV002580295.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022
Comment:
ACMG criteria applied: PS4, PM3, PM2_SUP, PP3
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Number of individuals with the variant: 1
Sex: female
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Pathogenic
(Jan 03, 2022)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 4A
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive Charcot-Marie-Tooth disease axonal type 2K Charcot-Marie-Tooth disease recessive intermediate A
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV002808013.1
First in ClinVar: Dec 31, 2022 Last updated: Dec 31, 2022 |
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Pathogenic
(Mar 10, 2022)
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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: SCV000513131.6
First in ClinVar: Mar 08, 2017 Last updated: Mar 04, 2023 |
Comment:
Published functional studies demonstrate that the variant results in protein mislocalization (Rzepnikowska et al., (2020); In silico analysis supports that this missense variant has a … (more)
Published functional studies demonstrate that the variant results in protein mislocalization (Rzepnikowska et al., (2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 18991200, 14561495, 17433678, 18504680, 20232219, 19500985, 17039978, 27549087, 29372391, 29858556, 32183277, 33477664, 31589614, 20685671, 20849849, 23628762, 32376792) (less)
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Pathogenic
(Jun 26, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Athena Diagnostics Inc
Accession: SCV004229675.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant segregates with autosomal recessive Charcot-Marie-Tooth disease in multiple families. … (more)
The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant segregates with autosomal recessive Charcot-Marie-Tooth disease in multiple families. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. Computational tools predict that this variant is damaging. (less)
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Pathogenic
(Dec 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Charcot-Marie-Tooth disease type 4A
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000947042.6
First in ClinVar: Aug 14, 2019 Last updated: Feb 14, 2024 |
Comment:
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 239 of the GDAP1 protein (p.Leu239Phe). … (more)
This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 239 of the GDAP1 protein (p.Leu239Phe). This variant is present in population databases (rs104894080, gnomAD 0.007%). This missense change has been observed in individual(s) with autosomal recessive Charcot-Marie-Tooth disease (PMID: 14561495, 17433678, 18504680, 18991200, 19500985, 20232219, 25231362). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It is commonly reported in individuals of European ancestry (PMID: 20232219). ClinVar contains an entry for this variant (Variation ID: 4200). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Sep 14, 2023)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV002665844.2
First in ClinVar: Nov 29, 2022 Last updated: May 01, 2024 |
Comment:
The c.715C>T (p.L239F) alteration is located in exon 6 (coding exon 6) of the GDAP1 gene. This alteration results from a C to T substitution … (more)
The c.715C>T (p.L239F) alteration is located in exon 6 (coding exon 6) of the GDAP1 gene. This alteration results from a C to T substitution at nucleotide position 715, causing the leucine (L) at amino acid position 239 to be replaced by a phenylalanine (F). Based on the available evidence, the GDAP1 c.715C>T (p.L239F) alteration is classified as pathogenic for autosomal recessive GDAP1-related Charcot-Marie-Tooth disease; however, it is unlikely to be causative of autosomal dominant GDAP1-related Charcot-Marie-Tooth disease, type 2. Based on data from gnomAD, the T allele has an overall frequency of 0.004% (10/282836) total alleles studied. The highest observed frequency was 0.008% (10/129150) of European (non-Finnish) alleles. This alteration was detected in the homozygous state and in conjunction with another alteration in GDAP1 in multiple individuals with autosomal recessive GDAP1-related Charcot-Marie-Tooth disease (Kabziska, 2010; Barankova, 2007; Moroni, 2009; Rougeot, 2008; Auer-Grumbach, 2008; Kabziska, 2014). This amino acid position is highly conserved in available vertebrate species. Functional studies suggest this variant disrupts mitochondrial and golgi function in yeast and human cells; however, the physiological relevance of these findings is unclear (Rzepnikowska, 2020; Binida, 2021). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as pathogenic. (less)
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Pathogenic
(Apr 25, 2018)
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no assertion criteria provided
Method: clinical testing
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Charcot-Marie-Tooth disease recessive intermediate A
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, Cologne University
Accession: SCV000787764.1
First in ClinVar: Oct 11, 2015 Last updated: Oct 11, 2015 |
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Pathogenic
(Jul 01, 2010)
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no assertion criteria provided
Method: literature only
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CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000024593.3
First in ClinVar: Apr 04, 2013 Last updated: Apr 30, 2023 |
Comment on evidence:
Charcot-Marie-Tooth Disease, Recessive Intermediate A In a 39-year-old woman with recessive intermediate Charcot-Marie-Tooth disease (CMTRIA; 608340), Kabzinska et al. (2006) identified a homozygous 715C-T transition … (more)
Charcot-Marie-Tooth Disease, Recessive Intermediate A In a 39-year-old woman with recessive intermediate Charcot-Marie-Tooth disease (CMTRIA; 608340), Kabzinska et al. (2006) identified a homozygous 715C-T transition in exon 6 of the GDAP1 gene, resulting in a leu239-to-phe (L239F) substitution. The patient had early onset of a motor and sensory neuropathy leading to severe disability in the third decade of life. Charcot-Marie-Tooth Disease, Type 2K Kabzinska et al. (2010) identified the L239F mutation, either in homozygous state or in compound heterozygous state with another pathogenic GDAP1 mutation (see, e.g., R282C; 606598.0006), in affected individuals from 4 families and in 2 individual patients, all with early-onset autosomal recessive CMT. Five of the families were Polish and 1 was Bulgarian. The age at onset ranged from 2 to 10 years, and all had gait abnormalities due to lower limb weakness and atrophy. Two patients who were homozygous for the L239F mutation became wheelchair-bound as young adults. Electrophysiologic studies showed that most patients had normal motor and sensory nerve conduction velocities, whereas a few had reduced responses. The diagnosis was autosomal recessive sensorimotor axonal neuropathy (CMT2K; 607831). Haplotype analysis indicated a founder effect for the L239F mutation, indicating that it is prevalent in the Central and Eastern European populations. Kabzinska et al. (2010) observed that the phenotype resulting from this missense mutation was slightly milder than that associated with GDAP1 nonsense mutations (e.g., S194X; 606598.0002). (less)
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Uncertain significance
(Oct 03, 2019)
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no assertion criteria provided
Method: literature only
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Charcot-Marie-Tooth disease axonal type 2K
Affected status: yes
Allele origin:
germline
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Inherited Neuropathy Consortium Ii, University Of Miami
Accession: SCV004174601.1
First in ClinVar: Dec 09, 2023 Last updated: Dec 09, 2023 |
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Uncertain significance
(-)
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no assertion criteria provided
Method: literature only
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Charcot-Marie-Tooth disease
Affected status: yes
Allele origin:
germline
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Inherited Neuropathy Consortium
Accession: SCV000929164.1
First in ClinVar: Jul 29, 2019 Last updated: Jul 29, 2019 |
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Uncertain significance
(Mar 01, 2022)
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no assertion criteria provided
Method: clinical testing
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Charcot-Marie-Tooth disease axonal type 2K
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
Accession: SCV002583421.1
First in ClinVar: Oct 15, 2022 Last updated: Oct 15, 2022 |
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Pathogenic
(Jul 01, 2010)
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no assertion criteria provided
Method: literature only
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CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K
Affected status: not provided
Allele origin:
germline
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OMIM
Accession: SCV000056929.3
First in ClinVar: Apr 04, 2013 Last updated: Apr 30, 2023 |
Comment on evidence:
Charcot-Marie-Tooth Disease, Recessive Intermediate A In a 39-year-old woman with recessive intermediate Charcot-Marie-Tooth disease (CMTRIA; 608340), Kabzinska et al. (2006) identified a homozygous 715C-T transition … (more)
Charcot-Marie-Tooth Disease, Recessive Intermediate A In a 39-year-old woman with recessive intermediate Charcot-Marie-Tooth disease (CMTRIA; 608340), Kabzinska et al. (2006) identified a homozygous 715C-T transition in exon 6 of the GDAP1 gene, resulting in a leu239-to-phe (L239F) substitution. The patient had early onset of a motor and sensory neuropathy leading to severe disability in the third decade of life. Charcot-Marie-Tooth Disease, Type 2K Kabzinska et al. (2010) identified the L239F mutation, either in homozygous state or in compound heterozygous state with another pathogenic GDAP1 mutation (see, e.g., R282C; 606598.0006), in affected individuals from 4 families and in 2 individual patients, all with early-onset autosomal recessive CMT. Five of the families were Polish and 1 was Bulgarian. The age at onset ranged from 2 to 10 years, and all had gait abnormalities due to lower limb weakness and atrophy. Two patients who were homozygous for the L239F mutation became wheelchair-bound as young adults. Electrophysiologic studies showed that most patients had normal motor and sensory nerve conduction velocities, whereas a few had reduced responses. The diagnosis was autosomal recessive sensorimotor axonal neuropathy (CMT2K; 607831). Haplotype analysis indicated a founder effect for the L239F mutation, indicating that it is prevalent in the Central and Eastern European populations. Kabzinska et al. (2010) observed that the phenotype resulting from this missense mutation was slightly milder than that associated with GDAP1 nonsense mutations (e.g., S194X; 606598.0002). (less)
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not provided
(-)
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no classification provided
Method: literature only
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Charcot-Marie-Tooth disease
Affected status: unknown
Allele origin:
germline
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GeneReviews
Accession: SCV000058090.4
First in ClinVar: Apr 04, 2013 Last updated: Oct 01, 2022 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors? | Kabzińska D | Genes | 2022 | PMID: 36140714 |
GDAP1 loss of function inhibits the mitochondrial pyruvate dehydrogenase complex by altering the actin cytoskeleton. | Wolf C | Communications biology | 2022 | PMID: 35662277 |
Mutations in GDAP1 Influence Structure and Function of the Trans-Golgi Network. | Binięda K | International journal of molecular sciences | 2021 | PMID: 33477664 |
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients. | Volodarsky M | Journal of medical genetics | 2021 | PMID: 32376792 |
Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model. | Rzepnikowska W | Genes | 2020 | PMID: 32183277 |
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes. | Capalbo A | PLoS genetics | 2019 | PMID: 31589614 |
GDAP1-Related Hereditary Motor and Sensory Neuropathy. | Adam MP | - | 2017 | PMID: 20301711 |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. | Laššuthová P | Orphanet journal of rare diseases | 2016 | PMID: 27549087 |
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach. | Zimoń M | Neurogenetics | 2015 | PMID: 25231362 |
A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation. | Kabzińska D | Acta biochimica Polonica | 2014 | PMID: 25337607 |
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype. | Kabzińska D | Neurogenetics | 2010 | PMID: 20232219 |
Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A. | Moroni I | Neuromuscular disorders : NMD | 2009 | PMID: 19500985 |
Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene. | Rougeot C | Neuropediatrics | 2008 | PMID: 18991200 |
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome. | Auer-Grumbach M | Neuropediatrics | 2008 | PMID: 18504680 |
GDAP1 mutations in Czech families with early-onset CMT. | Baránková L | Neuromuscular disorders : NMD | 2007 | PMID: 17433678 |
Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. | Kabzinska D | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2006 | PMID: 17039978 |
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. | Ammar N | Neuromuscular disorders : NMD | 2003 | PMID: 14561495 |
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Text-mined citations for rs104894080 ...
HelpRecord last updated May 01, 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.