ClinVar Miner

Submissions for variant NM_000903.3(NQO1):c.254T>C (p.Ile85Thr)

gnomAD frequency: 0.00001  dbSNP: rs45476693
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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 RCV004062189 SCV002742943 uncertain significance not specified 2024-08-03 criteria provided, single submitter clinical testing The p.I85T variant (also known as c.254T>C), located in coding exon 3 of the NQO1 gene, results from a T to C substitution at nucleotide position 254. The isoleucine at codon 85 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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