ClinVar Genomic variation as it relates to human health
NM_206933.4(USH2A):c.1841-2A>G
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_206933.4(USH2A):c.1841-2A>G
Variation ID: 48476 Accession: VCV000048476.46
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 1q41 1: 216289412 (GRCh38) [ NCBI UCSC ] 1: 216462754 (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 Jan 31, 2015 Apr 15, 2024 Jan 22, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_206933.4:c.1841-2A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
splice acceptor NM_007123.6:c.1841-2A>G splice acceptor NC_000001.11:g.216289412T>C NC_000001.10:g.216462754T>C NG_009497.2:g.139037A>G - Protein change
- Other names
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- Canonical SPDI
- NC_000001.11:216289411:T:C
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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.
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
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
Help
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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USH2A | - | - |
GRCh38 GRCh37 |
6942 | 8417 |
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 (1) |
criteria provided, single submitter
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Dec 4, 2018 | RCV000041799.13 | |
Pathogenic (1) |
criteria provided, single submitter
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Apr 28, 2017 | RCV000270130.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Oct 31, 2018 | RCV000665036.11 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Oct 3, 2023 | RCV000984014.12 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Jan 22, 2024 | RCV001069761.29 | |
Pathogenic (3) |
criteria provided, multiple submitters, no conflicts
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Apr 11, 2023 | RCV001271238.12 | |
Pathogenic (1) |
criteria provided, single submitter
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Jul 15, 2021 | RCV001544537.8 | |
Pathogenic (1) |
criteria provided, single submitter
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Jun 11, 2020 | RCV002470736.8 |
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
(Oct 31, 2018)
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criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2A
Retinitis pigmentosa 39
Affected status: unknown
Allele origin:
unknown
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Fulgent Genetics, Fulgent Genetics
Accession: SCV000893961.1
First in ClinVar: Mar 31, 2019 Last updated: Mar 31, 2019 |
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Pathogenic
(Jun 11, 2020)
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criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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Victorian Clinical Genetics Services, Murdoch Childrens Research Institute
Additional submitter:
Shariant Australia, Australian Genomics
Accession: SCV002767624.1
First in ClinVar: Dec 24, 2022 Last updated: Dec 24, 2022 |
Comment:
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease … (more)
Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0106 - This gene is known to be associated with autosomal recessive disease. (N) 0201 - Variant is predicted to cause nonsense-mediated decay (NMD) and loss of protein. (P) 0210 - Splice site variant (canonical or non-canonical) proven to affect splicing/expression of the transcript with a known effect on protein structure. This variant has been proven to cause skipping of exon 11 leading to a frameshift and a premature termination codon (PMID: 20497194; intron 10). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (4 heterozygotes, 0 homozygotes). (P) 0505 - Abnormal splicing is predicted by in-silico tools and affected nucleotide is highly conserved. (P) 0701 - Comparable variants have very strong previous evidence for pathogenicity. Other variants predicted to cause NMD have been reported as pathogenic in ClinVar. (P) 0801 - Strong previous evidence of pathogenicity in unrelated individuals. The variant has been previously reported as pathogenic in patients with retinitis pigmentosa and Usher syndrome type 2A (ClinVar, PMID: 12525556, 20497194, 22004887, 24875298). (P) 1205 - Variant is maternally inherited. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign (less)
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Pathogenic
(Jan 22, 2024)
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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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Invitae
Accession: SCV001234953.5
First in ClinVar: Apr 15, 2020 Last updated: Feb 14, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 10 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)
This sequence change affects an acceptor splice site in intron 10 of the USH2A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (rs397518003, gnomAD 0.004%). Disruption of this splice site has been observed in individuals with USH2A-related conditions (PMID: 12525556, 27460420, 29986705). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS10-2A>G. ClinVar contains an entry for this variant (Variation ID: 48476). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 20497194). For these reasons, this variant has been classified as Pathogenic. (less)
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Pathogenic
(Oct 20, 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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GeneDx
Accession: SCV001805256.1
First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
Comment:
Observed with a second USH2A variant in many patients with Usher syndrome or hearing loss in the published literature, but it is not known whether … (more)
Observed with a second USH2A variant in many patients with Usher syndrome or hearing loss in the published literature, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Sandberg et al., 2008; Vozzi et al., 2011; Zhang et al., 2016; Bonnet et al., 2016; Cabanillas et al., 2018); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33576794, 31589614, 32037395, 32036094, 31736247, 24875298, 27596865, 15823922, 19683999, 18641288, 21738395, 29986705, 31231422, 28559085, 24944099, 21569298, 22135276, 21487335, 27460420, 12525556, 25525159, 22004887, 20497194) (less)
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Pathogenic
(Nov 10, 2021)
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criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2A
Affected status: unknown
Allele origin:
unknown
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Myriad Genetics, Inc.
Accession: SCV002060158.2
First in ClinVar: Jan 15, 2022 Last updated: Nov 29, 2022 |
Comment:
NM_206933.2(USH2A):c.1841-2A>G is a canonical splice variant classified as pathogenic in the context of USH2A-related disorders. c.1841-2A>G has been observed in cases with relevant disease (PMID: … (more)
NM_206933.2(USH2A):c.1841-2A>G is a canonical splice variant classified as pathogenic in the context of USH2A-related disorders. c.1841-2A>G has been observed in cases with relevant disease (PMID: 12525556, 19683999, 31231422, 22004887, 32036094, 32531858, 28157192, 22135276, 24944099, 28559085, 27596865, 25575603). Functional assessments of this variant are available in the literature (PMID: 20497194). c.1841-2A>G has been observed in population frequency databases (gnomAD: NFE 0.004%). In summary, NM_206933.2(USH2A):c.1841-2A>G is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. (less)
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Pathogenic
(Oct 03, 2023)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 39
Affected status: unknown
Allele origin:
unknown
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Baylor Genetics
Accession: SCV004208218.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
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Pathogenic
(Apr 28, 2017)
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criteria provided, single submitter
Method: clinical testing
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USH2A-Related Disorders
Affected status: unknown
Allele origin:
germline
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Illumina Laboratory Services, Illumina
Accession: SCV000354157.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
The USH2A c.1841-2A>G occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.1841-2A>G variant … (more)
The USH2A c.1841-2A>G occurs in a canonical splice site (acceptor) and is therefore predicted to disrupt or distort the normal gene product. The c.1841-2A>G variant has been reported in ten studies in which it is found in a total of 14 individuals including five homozygotes, two compound heterozygotes and five heterozygotes with Usher syndrome, and two compound heterozygotes with autosomal recessive retinitis pigmentosa (Bernal et al. 2003; Maubaret et al. 2005; Sandberg et al. 2008; Jaijo et al. 2010; Jaijo et al. 2011; Garcia-Garcia et al. 2011; Vozzi et al. 2011; Le Quesne Stabej et al. 2012; Baux et al. 2014). The variant was also observed in a homozygous state in two siblings with non-syndromic hearing loss in whom no visual phenotype was reported (Vona et al. 2014). The variant was shown to co-segregate with autosomal recessive retinitis pigmentosa in one family (Bernal et al. 2003; Sandberg et al. 2008). The c.1841-2A>G variant was absent from 1272 control chromosomes and is reported at a frequency of 0.00004 in the European (non-Finnish) population of the Exome Aggregation Consortium. Using minigene assays the c.1841-2A>G variant was shown to cause skipping of exon 11 and an r.1841_1971del change at the RNA level, leading to a frameshift (p.Gly614AspfsX6) with premature truncation and the loss of approximately 88% of the protein. Based on the collective evidence and potential impact of splice acceptor variants, the c.1841-2A>G variant is classified as pathogenic for USH2A-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
(Dec 04, 2018)
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criteria provided, single submitter
Method: clinical testing
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Rare genetic deafness
(Autosomal recessive inheritance)
Affected status: not provided
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000065495.6
First in ClinVar: May 03, 2013 Last updated: Aug 26, 2019 |
Comment:
The c.1841-2A>G variant in USH2A has been reported in at least 12 probands with Usher syndrome and 2 probands with retinitis pigmentosa (RP), including at … (more)
The c.1841-2A>G variant in USH2A has been reported in at least 12 probands with Usher syndrome and 2 probands with retinitis pigmentosa (RP), including at least 3 homozygous individuals and 7 individuals who were compound heterozygous for a second pathogenic USH2A variant (Bernal 2003, Maubaret 2005, Sandberg 2008, Jai jo 2010, Garcia-Garcia 2011, Vozzi 2011, LeQuesne Stabej 2012, Sodi 2014, Lenard uzzi 2015, Bonnet 2016, LMM data). This variant segregated with RP in one affect ed sibling (Bernal 2003). It has also been identified in 0.003% (4/113596) of Eu ropean chromosomes by gnomAD (http://gnomad.broadinstitute.org); however, this f requency is low enough to be consistent with a recessive carrier frequency. Fina lly, the c.1841-2A>G variant is located in the canonical splice consensus sequen ce and functional studies demonstrate that it causes skipping of exon 11, leadin g to a frameshift and the introduction of a premature termination codon (Jaijo 2 011). In summary, this variant meets criteria to be classified as pathogenic for autosomal recessive Usher syndrome. ACMG/AMP criteria applied: PVS1, PM3_VerySt rong, PM2, PP4. (less)
Number of individuals with the variant: 2
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Pathogenic
(Apr 08, 2021)
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criteria provided, single submitter
Method: research
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Retinitis pigmentosa 39
Affected status: yes
Allele origin:
germline
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Ocular Genomics Institute, Massachusetts Eye and Ear
Accession: SCV001573710.1
First in ClinVar: May 10, 2021 Last updated: May 10, 2021 |
Comment:
The USH2A c.1841-2A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we … (more)
The USH2A c.1841-2A>G variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PS3, PM2, PM3, PP1, PP3. Based on this evidence we have classified this variant as Pathogenic. (less)
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Pathogenic
(Jul 15, 2021)
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criteria provided, single submitter
Method: clinical testing
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Nonsyndromic genetic hearing loss
(Autosomal recessive inheritance)
Affected status: yes
Allele origin:
germline
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INGEBI, INGEBI / CONICET
Accession: SCV001763583.1
First in ClinVar: Aug 07, 2021 Last updated: Aug 07, 2021 |
Comment:
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: The c.1841-2 A>G variant in USH2A gene has benn found in 4/113596 alleles only … (more)
Based on ACMG/AMP guidelines and Hearing Loss Expert Panel specific criteria: The c.1841-2 A>G variant in USH2A gene has benn found in 4/113596 alleles only in european non-finnish population (0.0012% with 95% CI) meeting PM2 rule . This type of variant is predicted to generate a lost of the acceptor splicing site in USH2A gene , which is a known mechanism of disease, PVS1. The c.1841-2 A>G has been identified in trans with different pathogenic variants in at least 10 individuals (PM3_VS): 2 patients with retinitis pigmentosa, 9 cases of type 2 Usher patients (PP4), one type 3 Usher patient and 3 hearing loss patients (variants detected in early childhood); (PMID:12525556, 18641288, 19683999, 21738395, 22004887, 22135276, 24875298, 24944099, 25558175, 25575603, 29986705, 27460420, this report). The c.1841-2 A>G segregated correctly in two familial cases: one family composed of two siblings with retinitis pigmentosa and two unaffected siblings and a second familiy case composed of two siblings with hearing loss (PMID: 12525556, 24875298) applying to PP1_Mod. Functional studies in COS-7 cells using minigen system demonstrated that this variant generated the skippining of exon 11 leading to a freamshift: p.Gly614Aspfs6* (PMID20497194); PS3_Supp.Considering PM2, PVS1_VS, PP4, PP1_M, PS3_S the variant is classfied as Pathogenic for Usher Syndrome and retinitis pigmentosa. (less)
Clinical Features:
Postlingual progressive bilateral moderate hearing loss (present)
Family history: no
Sex: female
Ethnicity/Population group: Caucasian
Geographic origin: Argentina
Tissue: blood
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Pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Retinitis pigmentosa 39
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004172192.1
First in ClinVar: Dec 09, 2023 Last updated: Dec 09, 2023 |
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Pathogenic
(Apr 11, 2023)
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criteria provided, single submitter
Method: clinical testing
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Usher syndrome type 2A
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV004172193.1
First in ClinVar: Dec 09, 2023 Last updated: Dec 09, 2023 |
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Pathogenic
(Oct 01, 2017)
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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: SCV001248861.20
First in ClinVar: May 09, 2020 Last updated: Apr 15, 2024 |
Number of individuals with the variant: 1
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Pathogenic
(Sep 16, 2020)
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no assertion criteria provided
Method: clinical testing
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Usher syndrome type 2A
Affected status: unknown
Allele origin:
germline
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Natera, Inc.
Accession: SCV001452254.1
First in ClinVar: Jan 02, 2021 Last updated: Jan 02, 2021 |
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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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Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period. | Weisschuh N | Human mutation | 2020 | PMID: 32531858 |
Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. | Rodríguez-Muñoz A | The Journal of molecular diagnostics : JMD | 2020 | PMID: 32036094 |
Genetic Screening of the Usher Syndrome in Cuba. | Santana EE | Frontiers in genetics | 2019 | PMID: 31231422 |
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. | Cabanillas R | BMC medical genomics | 2018 | PMID: 29986705 |
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. | Stone EM | Ophthalmology | 2017 | PMID: 28559085 |
Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. | Bravo-Gil N | Scientific reports | 2017 | PMID: 28157192 |
Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands. | Zhang Q | Scientific reports | 2016 | PMID: 27596865 |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. | Bonnet C | European journal of human genetics : EJHG | 2016 | PMID: 27460420 |
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. | Lenassi E | European journal of human genetics : EJHG | 2015 | PMID: 25649381 |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. | Lenarduzzi S | Hearing research | 2015 | PMID: 25575603 |
MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. | Sodi A | Molecular vision | 2014 | PMID: 25558175 |
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. | Baux D | Human mutation | 2014 | PMID: 24944099 |
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. | Vona B | Genetics in medicine : official journal of the American College of Medical Genetics | 2014 | PMID: 24875298 |
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. | Le Quesne Stabej P | Journal of medical genetics | 2012 | PMID: 22135276 |
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. | Garcia-Garcia G | Orphanet journal of rare diseases | 2011 | PMID: 22004887 |
Molecular epidemiology of Usher syndrome in Italy. | Vozzi D | Molecular vision | 2011 | PMID: 21738395 |
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss. | Saihan Z | Retina (Philadelphia, Pa.) | 2011 | PMID: 21487335 |
Functional analysis of splicing mutations in MYO7A and USH2A genes. | Jaijo T | Clinical genetics | 2011 | PMID: 20497194 |
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. | McGee TL | Journal of medical genetics | 2010 | PMID: 20507924 |
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. | Jaijo T | Investigative ophthalmology & visual science | 2010 | PMID: 19683999 |
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. | Sandberg MA | Investigative ophthalmology & visual science | 2008 | PMID: 18641288 |
Splicing in action: assessing disease causing sequence changes. | Baralle D | Journal of medical genetics | 2005 | PMID: 16199547 |
Novel mutations in MYO7A and USH2A in Usher syndrome. | Maubaret C | Ophthalmic genetics | 2005 | PMID: 15823922 |
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. | Bernal S | Journal of medical genetics | 2003 | PMID: 12525556 |
Identification of novel USH2A mutations: implications for the structure of USH2A protein. | Dreyer B | European journal of human genetics : EJHG | 2000 | PMID: 10909849 |
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. | Weston MD | American journal of human genetics | 2000 | PMID: 10729113 |
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Text-mined citations for rs397518003 ...
HelpRecord last updated May 08, 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.