ClinVar Miner

Submissions for variant NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808701 SCV000948816 pathogenic Severe congenital neutropenia 4, autosomal recessive 2018-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg189*) in the G6PC3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745582203, ExAC 0.003%). This variant has been observed as homozygous and compound heterozygous in individuals affected with G6PC3 deficiency and severe congenital neutropenia (PMID: 25491320, 22050868). Loss-of-function variants in G6PC3 are known to be pathogenic (PMID: 19118303, 25491320). For these reasons, this variant has been classified as Pathogenic.

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