ClinVar Miner

Submissions for variant NM_001927.4(DES):c.514C>T (p.Gln172Ter)

dbSNP: rs1559352440
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697545 SCV000826164 pathogenic Desmin-related myofibrillar myopathy 2020-09-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln172*) in the DES gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with DES-related conditions. ClinVar contains an entry for this variant (Variation ID: 575355). Loss-of-function variants in DES are known to be pathogenic (PMID: 23575897). For these reasons, this variant has been classified as Pathogenic.

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