ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr)

gnomAD frequency: 0.00002  dbSNP: rs746741551
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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 RCV001340897 SCV001534731 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2023-08-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 334 of the G6PC3 protein (p.Met334Thr). This variant is present in population databases (rs746741551, gnomAD 0.01%). 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: 1037704). 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. 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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