ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4291C>T (p.Arg1431Cys)

gnomAD frequency: 0.00002  dbSNP: rs749028996
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731617 SCV000859461 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV002535224 SCV003258444 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1413 of the DYSF protein (p.Arg1413Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs749028996, ExAC 0.002%). 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: 595932). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV000731617 SCV003831251 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing

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