ClinVar Miner

Submissions for variant NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)

gnomAD frequency: 0.00013  dbSNP: rs201794043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000983876 SCV001131917 likely benign Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2024-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166651 SCV001329046 uncertain significance G6PD deficiency 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003898003 SCV004711938 likely benign G6PD-related condition 2022-04-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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