ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

dbSNP: rs753279446
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668653 SCV000793287 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2017-08-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507163 SCV002816661 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2021-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532078 SCV003524775 pathogenic Qualitative or quantitative defects of dysferlin 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 1678 of the DYSF protein (p.Cys1678Ser). This variant is present in population databases (rs753279446, gnomAD 0.003%). This missense change has been observed in individual(s) with DYSF-related conditions (PMID: 16100712, 33927379). ClinVar contains an entry for this variant (Variation ID: 553247). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on DYSF protein function. This variant disrupts the p.Cys1678 amino acid residue in DYSF. Other variant(s) that disrupt this residue have been observed in individuals with DYSF-related conditions (PMID: 17994539, 25591676), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003459599 SCV004192233 likely pathogenic Miyoshi muscular dystrophy 1 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV005401566 SCV006060012 uncertain significance not provided 2024-10-24 criteria provided, single submitter clinical testing Reported in the published literature in patients with decreased dysferlin seen on Western blot analysis (PMID: 16100712, 33927379); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 24438169, 16100712, 33927379)

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