ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003600492 SCV004372203 pathogenic Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2024-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe71Serfs*45) in the G6PC3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in G6PC3 are known to be pathogenic (PMID: 19118303, 25491320). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 2777278). For these reasons, this variant has been classified as Pathogenic.

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