ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)

gnomAD frequency: 0.00001  dbSNP: rs771526931
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245874 SCV001419196 uncertain significance not provided 2022-05-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2699 of the USH2A protein (p.Arg2699Trp). This variant is present in population databases (rs771526931, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (PMID: 31054281, 32188678). ClinVar contains an entry for this variant (Variation ID: 970319). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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 RCV001245874 SCV005328174 uncertain significance not provided 2024-03-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32188678, 31054281, 36729443)
Natera, Inc. RCV001829973 SCV002090835 uncertain significance Usher syndrome type 2A 2020-01-24 no assertion criteria provided clinical testing

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