ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)

dbSNP: rs886043028
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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) RCV000273558 SCV000338053 uncertain significance not provided 2017-01-13 criteria provided, single submitter clinical testing
Invitae RCV000692816 SCV000820659 uncertain significance Qualitative or quantitative defects of dysferlin 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1870 of the DYSF protein (p.Arg1870Lys). This variant is not present in population databases (gnomAD no frequency). 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: 285152). 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.
GeneDx RCV000273558 SCV002818089 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV000273558 SCV003829591 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833345 SCV002080334 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-03-10 no assertion criteria provided clinical testing

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