ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)

dbSNP: rs1233961202
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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 RCV002568950 SCV003305339 pathogenic Qualitative or quantitative defects of dysferlin 2022-04-26 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1184483). 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. This missense change has been observed in individual(s) with Myoshi myopathy (PMID: 21392994). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1867 of the DYSF protein (p.Phe1867Leu).
Genomics England Pilot Project, Genomics England RCV001542524 SCV001760095 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B no assertion criteria provided clinical testing

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