ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)

gnomAD frequency: 0.00002  dbSNP: rs527467361
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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 RCV001219023 SCV001390943 uncertain significance not provided 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2882 of the USH2A protein (p.Gly2882Ala). This variant is present in population databases (rs527467361, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. 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: 947877). 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 RCV001219023 SCV005384462 uncertain significance not provided 2024-01-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001828744 SCV002090814 uncertain significance Usher syndrome type 2A 2020-06-29 no assertion criteria provided clinical testing

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