ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1243del (p.Arg415fs)

dbSNP: rs1954445390
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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 RCV001059576 SCV001224203 uncertain significance Desmin-related myofibrillar myopathy 2020-02-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the DES gene (p.Arg415Glyfs*32). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acids of the DES protein. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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