ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)

dbSNP: rs1557230050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313486 SCV001503983 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2020-08-19 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 expected to disrupt G6PD protein function. This variant has not been reported in the literature in individuals with G6PD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with serine at codon 277 of the G6PD protein (p.Ala277Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.
Mayo Clinic Laboratories, Mayo Clinic RCV003481065 SCV004225714 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing PM1, PM2

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