ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) (rs140294222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686679 SCV000814207 uncertain significance Severe congenital neutropenia 4, autosomal recessive 2018-07-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 189 of the G6PC3 protein (p.Arg189Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs140294222, ExAC 0.2%). This variant has been observed in individuals affected with neutropenia (PMID: 20220065, 25492228). ClinVar contains an entry for this variant (Variation ID: 262367). Experimental studies have shown that this missense has a discrete effect on protein function (PMID: 25492228). 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.
PreventionGenetics RCV000246035 SCV000315726 likely benign not specified criteria provided, single submitter clinical testing

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