ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.12578G>C (p.Arg4193Thr)

dbSNP: rs1657985421
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001350105 SCV001544478 uncertain significance not provided 2020-10-25 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with USH2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with threonine at codon 4193 of the USH2A protein (p.Arg4193Thr). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and threonine.

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