ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)

dbSNP: rs1553408378
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665389 SCV000789505 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861743 SCV002245557 pathogenic Qualitative or quantitative defects of dysferlin 2021-07-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550602). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu1518Argfs*24) 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).
Baylor Genetics RCV003465440 SCV004194179 likely pathogenic Miyoshi muscular dystrophy 1 2023-10-10 criteria provided, single submitter clinical testing

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