ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp)

gnomAD frequency: 0.00003  dbSNP: rs749542779
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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) RCV000307107 SCV000341688 uncertain significance not provided 2016-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001204777 SCV001375998 uncertain significance Qualitative or quantitative defects of dysferlin 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 853 of the DYSF protein (p.Arg853Trp). This variant is present in population databases (rs749542779, gnomAD 0.009%). 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: 287785). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV000307107 SCV001783174 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002518991 SCV003576449 uncertain significance Inborn genetic diseases 2021-09-17 criteria provided, single submitter clinical testing The c.2557C>T (p.R853W) alteration is located in exon 25 (coding exon 25) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 2557, causing the arginine (R) at amino acid position 853 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828244 SCV002079864 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-05-15 no assertion criteria provided clinical testing

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