ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln)

gnomAD frequency: 0.00002  dbSNP: rs765872526
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054474 SCV001218790 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 275 of the G6PC3 protein (p.Arg275Gln). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs765872526, ExAC 0.008%). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. 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.

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