ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.1571C>T (p.Ala524Val)

dbSNP: rs772624410
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785178 SCV000923745 uncertain significance Usher syndrome type 2A 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000785178 SCV001806337 uncertain significance Usher syndrome type 2A 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578969 SCV001806338 uncertain significance Retinitis pigmentosa 39 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535724 SCV003458549 likely pathogenic not provided 2023-08-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 634644). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 524 of the USH2A protein (p.Ala524Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Usher syndrome and/or retinitis pigmentosa (PMID: 30902645, 34148116). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on USH2A protein function. This variant disrupts the p.Ala524 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 30902645, 33576794). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001578969 SCV004208325 likely pathogenic Retinitis pigmentosa 39 2024-02-28 criteria provided, single submitter clinical testing

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