ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)

gnomAD frequency: 0.00003  dbSNP: rs758284713
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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) RCV000733159 SCV000861189 uncertain significance not provided 2018-05-14 criteria provided, single submitter clinical testing
Invitae RCV000793069 SCV000932405 uncertain significance Qualitative or quantitative defects of dysferlin 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1092 of the DYSF protein (p.Arg1092Cys). This variant is present in population databases (rs758284713, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. 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: 597130). 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.
Natera, Inc. RCV001272829 SCV001455220 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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