ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)

dbSNP: rs782668959
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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 RCV003622402 SCV004561243 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2023-02-14 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. This variant has not been reported in the literature in individuals affected with G6PD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces asparagine, which is neutral and polar, with threonine, which is neutral and polar, at codon 105 of the G6PD protein (p.Asn105Thr). 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 expected to disrupt G6PD protein function.

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