ClinVar Miner

Submissions for variant NM_001353214.3(DYM):c.500T>C (p.Ile167Thr)

dbSNP: rs75854087
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001932300 SCV002117861 uncertain significance not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 167 of the DYM protein (p.Ile167Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs75854087, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with DYM-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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