ClinVar Miner

Submissions for variant NM_001927.4(DES):c.394C>T (p.Gln132Ter)

dbSNP: rs1060503165
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001380227 SCV001578215 pathogenic Desmin-related myofibrillar myopathy 2022-07-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln132*) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 411124). This variant has not been reported in the literature in individuals affected with DES-related conditions.

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