ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)

gnomAD frequency: 0.00001  dbSNP: rs771876078
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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 RCV001246280 SCV001419623 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 345 of the SGCA protein (p.Arg345Gln). This variant is present in population databases (rs771876078, gnomAD 0.007%). 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: 970671). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692330 SCV005192953 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001246280 SCV002087590 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-04-14 no assertion criteria provided clinical testing

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