ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5590T>C (p.Cys1864Arg)

dbSNP: rs1957391864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001226491 SCV001398806 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine with arginine at codon 1864 of the MYO7A protein (p.Cys1864Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MYO7A-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.

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