ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)

gnomAD frequency: 0.00002  dbSNP: rs375692868
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000400510 SCV000345093 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001066076 SCV001231071 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-11-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 378 of the SGCA protein (p.Ala378Thr). This variant is present in population databases (rs375692868, gnomAD 0.004%). 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: 290522). 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 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.
Revvity Omics, Revvity RCV001066076 SCV003827587 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-12-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001066076 SCV003931721 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001066076 SCV002087596 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2019-11-11 no assertion criteria provided clinical testing

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