ClinVar Miner

Submissions for variant NM_001927.4(DES):c.7C>T (p.Gln3Ter)

dbSNP: rs1954358233
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037267 SCV001200673 pathogenic Desmin-related myofibrillar myopathy 2019-01-26 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3*) in the DES gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with DES-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897).
Revvity Omics, Revvity RCV003490014 SCV004238140 likely pathogenic not provided 2023-05-04 criteria provided, single submitter clinical testing

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