ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)

gnomAD frequency: 0.00001  dbSNP: rs769721856
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272470 SCV000338049 pathogenic not provided 2015-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382219 SCV001580890 pathogenic Qualitative or quantitative defects of dysferlin 2024-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1410*) 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 present in population databases (rs769721856, gnomAD 0.01%). 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: 285153). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000272470 SCV002021893 pathogenic not provided 2020-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025423 SCV005659317 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-02-12 criteria provided, single submitter clinical testing
Counsyl RCV000984261 SCV001132386 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-03-08 no assertion criteria provided clinical testing

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