ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.727G>A (p.Val243Met) (rs140785361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000287735 SCV000403132 uncertain significance Severe congenital neutropenia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000793327 SCV000932675 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 243 of the G6PC3 protein (p.Val243Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs140785361, ExAC 0.01%). This variant has not been reported in the literature in individuals with G6PC3-related disease. ClinVar contains an entry for this variant (Variation ID: 323469). 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 methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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