ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)

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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 RCV002909074 SCV003254013 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2022-10-16 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt G6PC3 protein function. This variant has not been reported in the literature in individuals affected with G6PC3-related conditions. This variant is present in population databases (rs748442084, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 225 of the G6PC3 protein (p.Ser225Phe).

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