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 2024-10-16 criteria provided, single submitter clinical testing 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). 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. ClinVar contains an entry for this variant (Variation ID: 1396574). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt G6PC3 protein function with a positive predictive value of 95%. 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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