ClinVar Miner

Submissions for variant NM_001927.4(DES):c.700G>T (p.Glu234Ter)

dbSNP: rs774739275
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002266017 SCV002058121 pathogenic Desmin-related myofibrillar myopathy 2022-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature stop codon [p.(Glu234*)] in the DES gene. It is expected to result in an absent or disrupted protein product. This variant is not present in the gnomAD database. 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 (e.g. PMID: 23575897, 23815709). For these reasons, this variant has been classified as Pathogenic.

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