ClinVar Miner

Submissions for variant NM_001927.4(DES):c.885G>A (p.Trp295Ter)

gnomAD frequency: 0.00001  dbSNP: rs146755676
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383569 SCV001582748 pathogenic Desmin-related myofibrillar myopathy 2022-09-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1071184). This variant has not been reported in the literature in individuals affected with DES-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp295*) in the DES gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897).
AiLife Diagnostics, AiLife Diagnostics RCV002224082 SCV002502173 likely pathogenic not provided 2021-07-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002476724 SCV002776616 likely pathogenic Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2021-11-06 criteria provided, single submitter clinical testing
GeneDx RCV002224082 SCV004168257 likely pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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