Submissions for variant NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)

gnomAD frequency: 0.00110  dbSNP: rs34193178

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001166654	SCV001329050	uncertain significance	G6PD deficiency	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae	RCV001500096	SCV001704877	likely benign	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2024-01-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000180548	SCV002048465	likely benign	not provided	2021-10-13	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002509203	SCV002819464	likely benign	not specified	2022-12-12	criteria provided, single submitter	clinical testing	Variant summary: G6PD c.1138G>C (p.Asp380His) results in a non-conservative amino acid change located in the Glucose-6-phosphate dehydrogenase, C-terminal domain (IPR022675) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00046 in 204594 control chromosomes, including 23 hemizygotes (gnomAD). c.1138G>C, also known as the "Mira d'Aire" variant, has been reported in the literature in individuals affected with Glucose 6 Phosphate Dehydrogenase Deficiency (e.g. Bulliamy_1997, Manco_2007, Powers_2018). These reports do not provide unequivocal conclusions about association of the variant with Glucose 6 Phosphate Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submitters have assessed the variant since 2014: one classified the variant as uncertain significance and three as likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000180548	SCV002822056	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	G6PD: BS2
Revvity Omics, Revvity	RCV001500096	SCV003828418	uncertain significance	Anemia, nonspherocytic hemolytic, due to G6PD deficiency	2023-12-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000180548	SCV000233012	pathogenic	not provided	2013-05-13	flagged submission	clinical testing