ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.185A>G (p.His62Arg) (rs137852340)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798781 SCV000938413 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 32 of the G6PD protein (p.His32Arg). The histidine residue is moderately conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs137852340, ExAC 0.2%). This variant has been observed to be hemizygous, homozygous, or in combination with another G6PD variant in an many individuals affected with G6PD deficiency and is considered a founder mutation in certain Asian populations (PMID: 29339739, 11601226, 30315739, 16329560, 10502785). This variant is also referred to as G6PD Gaohe in the literature. ClinVar contains an entry for this variant (Variation ID: 10403). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000798781 SCV001142117 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000011146 SCV000031373 other G6PD GAOHE 2017-05-24 no assertion criteria provided literature only

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