ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.922del (p.Glu308fs)

dbSNP: rs1553522133
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726952 SCV000704415 pathogenic not provided 2016-12-28 criteria provided, single submitter clinical testing
Counsyl RCV000591372 SCV000799526 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV001867948 SCV002220940 pathogenic Qualitative or quantitative defects of dysferlin 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu276Serfs*12) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with DYSF-related conditions (PMID: 25868377, 27363342). ClinVar contains an entry for this variant (Variation ID: 499095). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002506415 SCV002812709 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-02-28 criteria provided, single submitter clinical testing

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