ClinVar Miner

Submissions for variant NM_001927.4(DES):c.1354_1358del (p.Glu452fs)

dbSNP: rs1060503171
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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 RCV000456554 SCV000552177 uncertain significance Desmin-related myofibrillar myopathy 2018-03-22 criteria provided, single submitter clinical testing The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in DES cause disease. 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 not been reported in the literature in individuals with DES-related disease. ClinVar contains an entry for this variant (Variation ID: 411148). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the DES gene (p.Glu452Thrfs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acids of the DES protein.

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