ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6019T>C (p.Trp2007Arg)

dbSNP: rs886043194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402437 SCV000338890 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Invitae RCV003736688 SCV004551509 uncertain significance Qualitative or quantitative defects of dysferlin 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1968 of the DYSF protein (p.Trp1968Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 30564623; Invitae). ClinVar contains an entry for this variant (Variation ID: 285737). 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 expected to disrupt DYSF protein function with a positive predictive value of 95%. 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.

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