Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000066279 | SCV001582831 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2020-10-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects G6PD protein function (PMID: 12130518). This variant has been observed in individual(s) with glucose-6-phosphate dehydrogenase (G6PD) deficiency (PMID: 12130518). It has also been observed to segregate with disease in related individuals. This variant is also known as G6PD Amsterdam in the literature. ClinVar contains an entry for this variant (Variation ID: 10419). This variant is not present in population databases (ExAC no frequency). This variant, c.180_182del, results in the deletion of 1 amino acid(s) of the G6PD protein (p.Leu61del), but otherwise preserves the integrity of the reading frame. |
| Dunham Lab, |
RCV000066279 | SCV002599320 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in hemizygotes in two unrelated families; all have deficiency and one in each family has CNSHA (PP4, PS4_M). On one family, three brothers and heterozygous mother all have deficiency (PP1). Activity in red blood cells is below detection threshold, and purified protein has decreased specific activity (45%) and stability (50%); mRNA stability is also decreased (PS3). Leads to deletion of one amino acid (PM4). Not found in gnomAD (PM2). Post_P 0.999 (odds of pathogenicity 6568, Prior_P 0.1). |
| OMIM | RCV000066279 | SCV000105932 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2002-08-01 | no assertion criteria provided | literature only |