ClinVar Miner

Submissions for variant NM_001927.4(DES):c.359C>A (p.Ala120Asp)

dbSNP: rs1954373010
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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 RCV001059305 SCV001223926 uncertain significance Desmin-related myofibrillar myopathy 2019-01-14 criteria provided, single submitter clinical testing 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 been reported to affect DES protein function (PMID:24200904). This variant has been observed in a family affected with arrhythmogenic right ventricular compaction, dilated cardiomyopathy and sudden cardiac death (PMID: 24200904). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with aspartic acid at codon 120 of the DES protein (p.Ala120Asp). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and aspartic acid.

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