ClinVar Miner

Submissions for variant NM_000903.3(NQO1):c.737A>G (p.Glu246Gly)

dbSNP: rs2544317965
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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 RCV004055959 SCV002675039 uncertain significance not specified 2022-02-05 criteria provided, single submitter clinical testing The p.E246G variant (also known as c.737A>G), located in coding exon 6 of the NQO1 gene, results from an A to G substitution at nucleotide position 737. The glutamic acid at codon 246 is replaced by glycine, 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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