ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3334T>A (p.Trp1112Arg)

dbSNP: rs2545876644
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003739399 SCV004561706 pathogenic Qualitative or quantitative defects of dysferlin 2023-03-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. A different variant (c.3280T>C ) giving rise to the same protein effect has been determined to be pathogenic (PMID: 31268554, 33250842). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 1094 of the DYSF protein (p.Trp1094Arg).

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