ClinVar Miner

Submissions for variant NM_001927.4(DES):c.110G>T (p.Arg37Leu)

dbSNP: rs1954363342
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241290 SCV001414299 uncertain significance Desmin-related myofibrillar myopathy 2019-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 37 of the DES protein (p.Arg37Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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.

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