ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)

gnomAD frequency: 0.00071  dbSNP: rs148541407
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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) RCV000302512 SCV000335873 likely benign not specified 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV000547122 SCV000649721 likely benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000547122 SCV000914943 uncertain significance Qualitative or quantitative defects of dysferlin 2018-12-11 criteria provided, single submitter clinical testing The DYSF c.5149C>T (p.Arg1717Trp) variant is a missense variant which has been reported in one individual with dysferlin deficiency in a compound heterozygous state with a second missense variant (Cacciottolo et al. 2011). The p.Arg1717Trp variant was absent from 1000 controls and is reported at a frequency of 0.00116 in the European American population of the Exome Sequencing Project. Based on the evidence, the p.Arg1717Trp variant is classified as a variant of unknown significance but suspicious for pathogenicity for dysferlinopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Center for Human Genetics Tuebingen RCV001531488 SCV001746654 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DYSF: BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000302512 SCV002572379 uncertain significance not specified 2022-08-03 criteria provided, single submitter clinical testing Variant summary: DYSF c.5149C>T (p.Arg1717Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00052 in 251468 control chromosomes (gnomAD). This frequency is not significantly higher than expected for a pathogenic variant in DYSF causing Limb-Girdle Muscular Dystrophy, Autosomal Recessive (0.00052 vs 0.0031), allowing no conclusion about variant significance. c.5149C>T has been reported in the literature in individuals affected with Limb-Girdle Muscular Dystrophy, Autosomal Recessive (Cacciottolo_2011, Nallamilli_2018). These reports do not provide unequivocal conclusions about association of the variant with Limb-Girdle Muscular Dystrophy, Autosomal Recessive. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (n=3) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as uncertain significance.
Revvity Omics, Revvity RCV001531488 SCV003829587 uncertain significance not provided 2023-06-14 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001531488 SCV004224929 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274105 SCV001457849 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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