ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)

gnomAD frequency: 0.00004  dbSNP: rs372817333
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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) RCV000346849 SCV000343011 uncertain significance not provided 2016-07-15 criteria provided, single submitter clinical testing
Invitae RCV000694223 SCV000822657 uncertain significance Qualitative or quantitative defects of dysferlin 2022-09-19 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1093 of the DYSF protein (p.Arg1093Cys). This variant is present in population databases (rs372817333, gnomAD 0.008%). 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: 288793). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DYSF protein function. 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.
Ambry Genetics RCV002519312 SCV003537666 uncertain significance Inborn genetic diseases 2022-01-21 criteria provided, single submitter clinical testing The c.3277C>T (p.R1093C) alteration is located in exon 30 (coding exon 30) of the DYSF gene. This alteration results from a C to T substitution at nucleotide position 3277, causing the arginine (R) at amino acid position 1093 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000346849 SCV003829622 uncertain significance not provided 2019-03-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833384 SCV002082269 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-12 no assertion criteria provided clinical testing

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