ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)

dbSNP: rs2144494625
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001787673 SCV002031194 uncertain significance not provided 2021-06-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 19781108, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV002544314 SCV003446235 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-08-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 104 of the SGCA protein (p.Glu104Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SGCA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002544314 SCV003931650 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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