ClinVar Miner

Submissions for variant NM_000402.4(G6PD):c.727G>T (p.Val243Leu) (rs137852326)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790819 SCV000231599 pathogenic not provided 2012-08-21 criteria provided, single submitter clinical testing
Courtagen Diagnostics Laboratory,Courtagen Life Sciences RCV000066251 SCV000236517 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2014-08-28 criteria provided, single submitter clinical testing
Invitae RCV000066251 SCV001235829 uncertain significance Anemia, nonspherocytic hemolytic, due to G6PD deficiency 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 213 of the G6PD protein (p.Val213Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individuals affected with glucose-6-phosphate dehydrogenase deficiency (PMID: 1999409, Invitae). ClinVar contains an entry for this variant (Variation ID: 10383). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000011110 SCV000031337 other G6PD GASTONIA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011111 SCV000031338 other G6PD MARION 2017-05-24 no assertion criteria provided literature only
OMIM RCV000011112 SCV000031339 other G6PD MINNESOTA 2017-05-24 no assertion criteria provided literature only
OMIM RCV000066251 SCV000105928 pathogenic Anemia, nonspherocytic hemolytic, due to G6PD deficiency 1990-12-01 no assertion criteria provided literature only

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