ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)

dbSNP: rs1057516051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671692 SCV000796692 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381690 SCV001580183 pathogenic Qualitative or quantitative defects of dysferlin 2023-11-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1609Argfs*4) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (LGMD) (PMID: 29970176). ClinVar contains an entry for this variant (Variation ID: 369690). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004567872 SCV005060257 pathogenic Miyoshi muscular dystrophy 1 2024-03-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Wuerzburg RCV000408636 SCV000484454 pathogenic Proximal muscle weakness no assertion criteria provided clinical testing

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