ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)

dbSNP: rs2545800359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310059 SCV002604310 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-11-19 criteria provided, single submitter clinical testing NM_003494.3(DYSF):c.2778G>A(W926*) is expected to be pathogenic in the context of dysferlinopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in DYSF, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.
Labcorp Genetics (formerly Invitae), Labcorp RCV003574904 SCV004275645 pathogenic Qualitative or quantitative defects of dysferlin 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp926*) 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: 33610434). ClinVar contains an entry for this variant (Variation ID: 1724791). For these reasons, this variant has been classified as Pathogenic.

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