ClinVar Miner

Submissions for variant NM_000903.3(NQO1):c.773A>G (p.His258Arg)

gnomAD frequency: 0.00002  dbSNP: rs768138736
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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 RCV004054629 SCV002669348 uncertain significance not specified 2022-10-20 criteria provided, single submitter clinical testing The p.H258R variant (also known as c.773A>G), located in coding exon 6 of the NQO1 gene, results from an A to G substitution at nucleotide position 773. The histidine at codon 258 is replaced by arginine, an amino acid with highly 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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