ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.563C>G (p.Pro188Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002933604 SCV003269388 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2C 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 188 of the SGCG protein (p.Pro188Arg). This variant is present in population databases (rs753806016, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SGCG-related conditions. 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 not expected to disrupt SGCG 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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