Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Eurofins Ntd Llc |
RCV000723531 | SCV000231597 | pathogenic | not provided | 2014-05-14 | criteria provided, single submitter | clinical testing | |
| ARUP Laboratories, |
RCV000508226 | SCV000603766 | likely pathogenic | not specified | 2016-12-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000818047 | SCV000958641 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 165 of the G6PD protein (p.Asn165Asp). This variant is present in population databases (rs137852331, gnomAD 0.08%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with glucose-6-phosphate dehydrogenase deficiency (PMID: 1562739, 7789945, 8118045, 18270558). This variant is also known as "Taipei" or "Chinese-3". ClinVar contains an entry for this variant (Variation ID: 10393). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects G6PD function (PMID: 8118045). For these reasons, this variant has been classified as Pathogenic. |
| Mendelics | RCV000818047 | SCV002516418 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Dunham Lab, |
RCV000818047 | SCV002599332 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-08-12 | criteria provided, single submitter | curation | Variant found in unrelated hemizygotes with deficiency (PS4_M, PP4); for one, heterozygous mother also has deficiency (PP1). Decreased activity in red blood cells (7-25%) (PS3). Below expected carrier frequency in gnomAD (PM2). Reported as pathogenic by Eurofins (PP5). Post_P 0.997 (odds of pathogenicity 3155, Prior_P 0.1). |
| Fulgent Genetics, |
RCV002504777 | SCV002810950 | likely pathogenic | Malaria, susceptibility to; Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2022-02-25 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003460455 | SCV004195389 | pathogenic | Malaria, susceptibility to | 2024-03-08 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV000818047 | SCV005086935 | pathogenic | Anemia, nonspherocytic hemolytic, due to G6PD deficiency | 2023-07-17 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.3.4, this variant is classified as Pathogenic. Following criteria are met: 0102 - Loss of function is a known mechanism of disease in this gene and is associated with G6PD deficient hemolytic anemia (favism) (MIM#300908). (I) 0109 - This gene is associated with X-linked recessive disease. Hemizygous males and homozygous females are commonly affected; however, some heterozygous female carriers can also be affected depending on X-inactivation. (I) 0200 - Variant is predicted to result in a missense amino acid change from asparagine to aspartic acid. (I) 0253 - This variant is hemizygous. (I) 0304 - Variant is present in gnomAD (v2) <0.01 (8 heterozygotes, 0 homozygote, 4 hemizygotes). (SP) 0503 - Missense variant consistently predicted to be tolerated by multiple in silico tools or not conserved in placental mammals with a minor amino acid change. (SB) 0600 - Variant is located in the annotated Glucose-6-phosphate dehydrogenase, NAD binding domain (DECIPHER). (I) 0801 - This variant has strong previous evidence of pathogenicity in unrelated individuals. This variant is known as the Taipei variant, and has been reported in multiple hemizygous and heterozygous individuals with G6PD deficiency and/or episodic acute haemolytic anaemia (ClinVar, PMID: PMID: 1562739, PMID: 36150187, PMID: 30045279). (SP) 1002 - This variant has moderate functional evidence supporting abnormal protein function. Significantly reduced enzyme activity has been demonstrated in patients with this variant (PMID: 36150187, PMID: 30045279). (SP) 1205 - This variant has been shown to be maternally inherited (by trio analysis). (I) Legend: (SP) - Supporting pathogenic, (I) - Information, (SB) - Supporting benign |
| OMIM | RCV000011128 | SCV000031355 | other | G6PD TAIWAN-HAKKA 2 | 2013-04-18 | no assertion criteria provided | literature only |