ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.561del (p.Gly188fs)

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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. RCV002309171 SCV002602980 likely pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-03-29 criteria provided, single submitter clinical testing NM_003494.3(DYSF):c.465delA(G156Efs*71) 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 RCV005096132 SCV005797746 pathogenic Qualitative or quantitative defects of dysferlin 2024-11-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly156Glufs*71) 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 variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 1725487). For these reasons, this variant has been classified as Pathogenic.

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