ClinVar Miner

Submissions for variant NM_001927.4(DES):c.962T>A (p.Met321Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003083886 SCV003467230 uncertain significance Desmin-related myofibrillar myopathy 2022-09-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs760197212, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 321 of the DES protein (p.Met321Lys). This variant has not been reported in the literature in individuals affected with DES-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV003491227 SCV004234306 uncertain significance not provided 2023-03-30 criteria provided, single submitter clinical testing

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