ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5533C>T (p.Arg1845Trp)

gnomAD frequency: 0.00003  dbSNP: rs369627849
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594588 SCV000708311 uncertain significance not provided 2017-05-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563804 SCV001786838 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563805 SCV001786839 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563806 SCV001786840 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002532622 SCV003229456 uncertain significance Qualitative or quantitative defects of dysferlin 2022-03-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1806 of the DYSF protein (p.Arg1806Trp). This variant is present in population databases (rs369627849, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 501808). 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. 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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