ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.598G>C (p.Val200Leu)

dbSNP: rs781022362
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209577 SCV001381019 uncertain significance not provided 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 200 of the USH2A protein (p.Val200Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. 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 tolerated. 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 RCV001209577 SCV001988588 uncertain significance not provided 2019-08-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003449659 SCV004182966 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003449658 SCV004182968 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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