ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)

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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 RCV003023716 SCV003322842 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-04-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 369 of the SGCA protein (p.Glu369Lys). This variant is present in population databases (rs750104371, gnomAD 0.0009%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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