Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000347245 | SCV000332812 | uncertain significance | not provided | 2015-07-09 | criteria provided, single submitter | clinical testing | |
Dunham Lab, |
RCV002305477 | SCV002599145 | benign | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygotes without G6PD deficiency (BS2) and the activity in red blood cells is within the normal range (BS3). Post_P 0.00032 (odds of pathogenicity 0.0029, Prior_P 0.1). |
Invitae | RCV002305477 | SCV003445871 | uncertain significance | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 113 of the G6PD protein (p.Asp113Asn). This variant is present in population databases (rs5030870, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with G6PD-related conditions. ClinVar contains an entry for this variant (Variation ID: 281819). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. |