ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp) (rs138557340)

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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 RCV000319135 SCV000403127 uncertain significance Severe congenital neutropenia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000792878 SCV000932204 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2018-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 136 of the G6PC3 protein (p.Arg136Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs138557340, ExAC 0.02%). This variant has not been reported in the literature in individuals with G6PC3-related disease. ClinVar contains an entry for this variant (Variation ID: 323464). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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