ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg)

dbSNP: rs111033377
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041824 SCV000065520 uncertain significance not specified 2008-03-01 criteria provided, single submitter clinical testing
Invitae RCV002514161 SCV003025057 uncertain significance not provided 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1057 of the USH2A protein (p.Gln1057Arg). This variant is not present in population databases (gnomAD no frequency). 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: 48498). 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: "Probably Damaging"; 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.
Genome-Nilou Lab RCV003450837 SCV004182369 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003450836 SCV004182370 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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