ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)

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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 RCV002815582 SCV003207746 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 153 of the G6PC3 protein (p.Phe153Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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