ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)

dbSNP: rs373585652
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000711569 SCV000331137 pathogenic not provided 2016-10-26 criteria provided, single submitter clinical testing
Invitae RCV000693273 SCV000821135 pathogenic Qualitative or quantitative defects of dysferlin 2024-01-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg204*) 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 (rs373585652, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with dysferlinopathies (PMID: 16010686, 18853459, 20544924, 21816046, 23243261, 25135358, 27647186). ClinVar contains an entry for this variant (Variation ID: 94352). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV000711569 SCV000841948 pathogenic not provided 2018-03-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000711569 SCV002021832 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003114244 SCV003800938 pathogenic Autosomal recessive limb-girdle muscular dystrophy 2023-01-19 criteria provided, single submitter clinical testing Variant summary: DYSF c.610C>T (p.Arg204X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251480 control chromosomes (gnomAD). c.610C>T has been reported in the literature in multiple individuals affected with dysferlinopathy and autosomal recessive Limb-Girdle Muscular Dystrophy (e.g. Rosales_2010, Takahashi_2013, Harris_2016). These data indicate that the variant is very likely to be associated with disease. Six ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Baylor Genetics RCV003474680 SCV004194158 pathogenic Miyoshi muscular dystrophy 1 2023-10-26 criteria provided, single submitter clinical testing
Counsyl RCV000179424 SCV000486601 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2016-11-02 no assertion criteria provided clinical testing
Natera, Inc. RCV000179424 SCV001457606 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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