ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)

dbSNP: rs1553422709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666916 SCV000791289 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-10-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465457 SCV004196540 likely pathogenic Miyoshi muscular dystrophy 1 2023-04-24 criteria provided, single submitter clinical testing
Invitae RCV003767952 SCV004628152 pathogenic Qualitative or quantitative defects of dysferlin 2023-01-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 551775). This premature translational stop signal has been observed in individual(s) with clinical features of DYSF-related conditions (PMID: 32400077). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2045*) 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). For these reasons, this variant has been classified as Pathogenic.

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