ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln)

gnomAD frequency: 0.00009  dbSNP: rs750355531
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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 RCV001297498 SCV001486518 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-08-31 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 246 of the G6PC3 protein (p.Arg246Gln). This variant is present in population databases (rs750355531, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1001236). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001509548 SCV001716317 uncertain significance not provided 2020-03-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004978255 SCV005594960 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The p.R246Q variant (also known as c.737G>A), located in coding exon 6 of the G6PC3 gene, results from a G to A substitution at nucleotide position 737. The arginine at codon 246 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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