ClinVar Miner

Submissions for variant NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)

dbSNP: rs1553370437
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597839 SCV000708862 pathogenic not provided 2017-05-26 criteria provided, single submitter clinical testing
Invitae RCV000817766 SCV000958349 pathogenic Qualitative or quantitative defects of dysferlin 2018-08-27 criteria provided, single submitter clinical testing Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). This variant has not been reported in the literature in individuals with DYSF-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met1128Ilefs*47) in the DYSF gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003465347 SCV004194237 likely pathogenic Miyoshi muscular dystrophy 1 2023-08-02 criteria provided, single submitter clinical testing

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