ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser)

dbSNP: rs771610821
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074358 SCV001239934 uncertain significance Retinal dystrophy 2019-07-22 criteria provided, single submitter clinical testing
Invitae RCV002554710 SCV002978538 uncertain significance not provided 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 3492 of the USH2A protein (p.Ala3492Ser). This variant is present in population databases (rs771610821, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 866403). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002554710 SCV004040405 uncertain significance not provided 2023-03-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003455362 SCV004182557 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003455361 SCV004182558 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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