ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro)

dbSNP: rs2144145534
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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 RCV001903050 SCV002166978 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-08-09 criteria provided, single submitter clinical testing 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1396574). This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 75 of the G6PC3 protein (p.Leu75Pro).

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