ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003085524 SCV003463218 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-09-08 criteria provided, single submitter clinical testing 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). This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 31268554, 33250842). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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. ClinVar contains an entry for this variant (Variation ID: 2153164).
Baylor Genetics RCV003465948 SCV004192261 likely pathogenic Miyoshi muscular dystrophy 1 2024-03-06 criteria provided, single submitter clinical testing

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