ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3018_3019delinsAA (p.Cys1006_Pro1007delinsTer)

dbSNP: rs2152814567
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380107 SCV001578053 pathogenic Qualitative or quantitative defects of dysferlin 2022-08-31 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 25868377). ClinVar contains an entry for this variant (Variation ID: 1068508). For these reasons, this variant has been classified as Pathogenic. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Cys988*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480).

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