ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.716A>G (p.His239Arg)

gnomAD frequency: 0.00001  dbSNP: rs398123099
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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) RCV000077940 SCV000109769 uncertain significance not provided 2013-08-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001854370 SCV002125270 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-07-25 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 239 of the SGCA protein (p.His239Arg). This variant is present in population databases (rs398123099, gnomAD 0.0009%). 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: 92304). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Genome-Nilou Lab RCV001854370 SCV003931691 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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