ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.568G>A (p.Val190Met)

dbSNP: rs2050072075
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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 RCV001342710 SCV001536655 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2020-03-09 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with G6PC3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 190 of the G6PC3 protein (p.Val190Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine.

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