Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790819 | SCV000231599 | pathogenic | not provided | 2012-08-21 | criteria provided, single submitter | clinical testing | |
Courtagen Diagnostics Laboratory, |
RCV000066251 | SCV000236517 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2014-08-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000066251 | SCV001235829 | likely pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-01-26 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 10383). This variant is also known as G6PD Gastonia. This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 1805484, 1999409; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 213 of the G6PD protein (p.Val213Leu). |
Mayo Clinic Laboratories, |
RCV000790819 | SCV001715687 | likely pathogenic | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | PS4_moderate, PM1, PM2, PP5, BP4 |
ARUP Laboratories, |
RCV000790819 | SCV002050010 | pathogenic | not provided | 2021-11-24 | criteria provided, single submitter | clinical testing | The G6PD c.637G>T; p.Val213Leu variant (rs137852326), also known as G6PD Marion, G6PD Gastonia and G6PD Minnesota, is reported in the literature in individuals with G6PD deficiency and nonspherocytic hemolytic anemia (Buetler 1991). In addition, this variant has also been reported in an infant with severe hyperbilirubinemia and cholestasis in conjunction with G6PD Cincinnati (Mizukawa 2011). Functional analyses of the variant protein show a significant reduction in enzymatic activity (Buetler 1991). This variant is also reported in ClinVar (Variation ID: 10383). This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 213 is highly conserved, but computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.688). Considering available information, this variant is classified as a class I pathogenic variant. References: Beutler E et al. DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. J Biol Chem. 1991 Mar 5;266(7):4145-50. Mizukawa B et al. Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis. Pediatr Blood Cancer. 2011 May;56(5):840-2. |
Institute of Human Genetics, |
RCV002287328 | SCV002577776 | likely pathogenic | Abnormal circulating glucose-6-phosphate dehydrogenase concentration | 2021-12-08 | criteria provided, single submitter | clinical testing | ACMG categories: PS3,PM2,PP2,PP3,BP1 |
Dunham Lab, |
RCV000066251 | SCV002599341 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in unrelated hemizygotes with deficiency and CNSHA (PS4_M, PP4). Decreased activity in red blood cells (3-9%) (PS3). Below expected carrier frequency in gnomAD (PM2). Reported as pathogenic by multiple clinical testing groups (PP5). Post_P 0.994 (odds of pathogenicity 1517, Prior_P 0.1). |
Revvity Omics, |
RCV000066251 | SCV003820099 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-09-08 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000011110 | SCV000031337 | other | G6PD GASTONIA | 2017-05-24 | no assertion criteria provided | literature only | |
OMIM | RCV000011111 | SCV000031338 | other | G6PD MARION | 2017-05-24 | no assertion criteria provided | literature only | |
OMIM | RCV000011112 | SCV000031339 | other | G6PD MINNESOTA | 2017-05-24 | no assertion criteria provided | literature only | |
OMIM | RCV000066251 | SCV000105928 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 1990-12-01 | no assertion criteria provided | literature only |