ClinVar Miner

Submissions for variant NM_000903.3(NQO1):c.739G>A (p.Glu247Lys)

dbSNP: rs2038031938
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004055981 SCV002673958 uncertain significance not specified 2022-05-03 criteria provided, single submitter clinical testing The p.E247K variant (also known as c.739G>A), located in coding exon 6 of the NQO1 gene, results from a G to A substitution at nucleotide position 739. The glutamic acid at codon 247 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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