ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)

gnomAD frequency: 0.00001  dbSNP: rs1485173724
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674780 SCV000800176 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674780 SCV000893288 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000797378 SCV000936932 pathogenic not provided 2024-01-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2323*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 26927203, 29625443). ClinVar contains an entry for this variant (Variation ID: 558501). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000797378 SCV002762305 pathogenic not provided 2022-11-23 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26927203, 33302505, 35266249, 30459346, 29625443)
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389481 SCV003927152 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV004527731 SCV004111769 pathogenic USH2A-related disorder 2023-02-22 criteria provided, single submitter clinical testing The USH2A c.6967C>T variant is predicted to result in premature protein termination (p.Arg2323*). This variant has been reported in individuals with Usher syndrome or non-syndromic retinitis pigmentosa (Pierrache et al. 2016. PubMed ID: 26927203; Table S3 in Sun et al. 2018. PubMed ID: 29625443; Martín-Sánchez et al. 2020. PubMed ID: 33302505). This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-216138812-G-A). Nonsense variants in USH2A are expected to be pathogenic, and this variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/558501). Given all the evidence, we interpret c.6967C>T (p.Arg2323*) as pathogenic.
Genome-Nilou Lab RCV003453389 SCV004181586 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001829884 SCV004181587 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453389 SCV004208245 pathogenic Retinitis pigmentosa 39 2023-12-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829884 SCV002090869 pathogenic Usher syndrome type 2A 2020-09-02 no assertion criteria provided clinical testing

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