ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)

gnomAD frequency: 0.00002  dbSNP: rs779834721
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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) RCV000399368 SCV000334645 uncertain significance not provided 2015-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859567 SCV002108868 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2021-10-14 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 370 of the SGCA protein (p.Arg370Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs779834721, ExAC 0.009%). 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: 282905). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV001859567 SCV003931718 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2D 2023-02-08 criteria provided, single submitter clinical testing

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