ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10636G>A (p.Gly3546Arg)

dbSNP: rs1553261372
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673865 SCV000799116 likely pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-04-12 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075394 SCV001241016 pathogenic Retinal dystrophy 2018-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861824 SCV002240288 pathogenic not provided 2023-09-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 3546 of the USH2A protein (p.Gly3546Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Usher syndrome (PMID: 22004887, 22009552, 24944099). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 557692). 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. For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003453368 SCV004182197 likely pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453367 SCV004182198 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453368 SCV004206383 likely pathogenic Retinitis pigmentosa 39 2022-10-11 criteria provided, single submitter clinical testing

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