ClinVar Miner

Submissions for variant NM_001927.4(DES):c.254_255insT (p.Gly86fs)

gnomAD frequency: 0.00001  dbSNP: rs1273708097
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001038112 SCV001201560 pathogenic Desmin-related myofibrillar myopathy 2019-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly86Argfs*32) in the DES gene. It is expected to result in an absent or disrupted protein product. 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. Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV002223970 SCV002503251 likely pathogenic not provided 2021-12-31 criteria provided, single submitter clinical testing

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