ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12559C>T (p.Arg4187Cys)

gnomAD frequency: 0.00001  dbSNP: rs760177550
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001779897 SCV002015786 uncertain significance not provided 2021-11-01 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 in association with USH2A-related disease to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001779897 SCV003288103 uncertain significance not provided 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 4187 of the USH2A protein (p.Arg4187Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs760177550, ExAC 0.01%). 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 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.
Genome-Nilou Lab RCV003451928 SCV004181985 uncertain significance Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003451927 SCV004181986 uncertain significance Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing

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