ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1133A>G (p.Lys378Arg)

dbSNP: rs202010947
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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 RCV001980651 SCV002274934 uncertain significance Desmin-related myofibrillar myopathy 2022-02-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 378 of the DES protein (p.Lys378Arg). This variant has not been reported in the literature in individuals affected with DES-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").

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