ClinVar Miner

Submissions for variant NM_001927.4(DES):c.680G>T (p.Arg227Leu)

dbSNP: rs141486420
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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 RCV001368603 SCV001565002 uncertain significance Desmin-related myofibrillar myopathy 2020-08-26 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals with DES-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with leucine at codon 227 of the DES protein (p.Arg227Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine.

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