ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)

gnomAD frequency: 0.00001  dbSNP: rs753972912
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802542 SCV000942379 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-07-18 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 241 of the SGCA protein (p.Arg241Cys). This variant is present in population databases (rs753972912, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SGCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 647918). 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 SGCA 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689891 SCV005185248 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000802542 SCV002087574 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-11-24 no assertion criteria provided clinical testing

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