ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)

dbSNP: rs398123773
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176393 SCV000228043 pathogenic not provided 2013-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390522 SCV001592264 pathogenic Qualitative or quantitative defects of dysferlin 2021-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln771*) 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 DYSF-related conditions (PMID: 26000923, 32576226, 33610434, 33613410). ClinVar contains an entry for this variant (Variation ID: 94286). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000176393 SCV002021854 pathogenic not provided 2019-08-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV003466982 SCV004194210 pathogenic Miyoshi muscular dystrophy 1 2023-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005025136 SCV005659288 pathogenic Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2024-04-02 criteria provided, single submitter clinical testing
Department of Neurology, Guangzhou First People’s Hospital, School of Medicine, South China University of Technology RCV001089587 SCV001244906 pathogenic Distal myopathy with anterior tibial onset 2019-07-01 no assertion criteria provided reference population

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