ClinVar Miner

Submissions for variant NM_001927.4(DES):c.226del (p.Thr76fs)

gnomAD frequency: 0.00003  dbSNP: rs1399282762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797371 SCV000936925 pathogenic Desmin-related myofibrillar myopathy 2022-12-16 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Thr76Profs*22) 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 premature translational stop signal has been observed in individual(s) with recessive desmin-null muscular dystrophy (PMID: 23575897). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 643624). This variant is also known as p.Thr76fsX21.
Fulgent Genetics, Fulgent Genetics RCV002477819 SCV002785221 pathogenic Dilated cardiomyopathy 1I; Desmin-related myofibrillar myopathy; Neurogenic scapuloperoneal syndrome, Kaeser type 2021-09-20 criteria provided, single submitter clinical testing

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