ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1471dup (p.Met491fs)

dbSNP: rs1236367931
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665852 SCV000790039 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001053757 SCV001218034 pathogenic Qualitative or quantitative defects of dysferlin 2024-02-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met459Asnfs*15) 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 individual(s) with dysferlinopathy (PMID: 25591676, 27647186, 29797799, 30107846). This variant is also known as c.1370dupA. ClinVar contains an entry for this variant (Variation ID: 550946). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465444 SCV004194242 pathogenic Miyoshi muscular dystrophy 1 2023-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000665852 SCV001458642 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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