ClinVar Miner

Submissions for variant NM_001319945.2(G6PC3):c.210del (p.Phe71fs) (rs769441127)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000192088 SCV000960122 pathogenic Severe congenital neutropenia 4, autosomal recessive 2018-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe71Serfs*46) in the G6PC3 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769441127, ExAC 0.2%). This variant has been observed in several individuals affected with congenital neutropenia (PMID: 19775295, 22050868, 27577878). This variant is also known as I70fsX115 and Ile70fsX46 in the literature. ClinVar contains an entry for this variant (Variation ID: 189782). Loss-of-function variants in G6PC3 are known to be pathogenic (PMID: 19118303, 25491320). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000192088 SCV000222644 pathogenic Severe congenital neutropenia 4, autosomal recessive 2015-01-18 no assertion criteria provided literature only

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