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

dbSNP: rs1557230050

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001313486	SCV001503983	uncertain significance	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2020-08-19	criteria provided, single submitter	clinical testing	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 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. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with G6PD-related conditions. 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.
Mayo Clinic Laboratories, Mayo Clinic	RCV003481065	SCV004225714	uncertain significance	not provided	2022-07-19	criteria provided, single submitter	clinical testing	PM1, PM2