ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.542G>T (p.Arg181Leu)

dbSNP: rs746412103
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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 RCV001317894 SCV001508574 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 181 of the SGCA protein (p.Arg181Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SGCA-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 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.

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