ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.245A>G (p.Gln82Arg)

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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 RCV003368206 SCV004056946 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-03 criteria provided, single submitter clinical testing The p.Q90R variant (also known as c.269A>G), located in coding exon 2 of the NTHL1 gene, results from an A to G substitution at nucleotide position 269. The glutamine at codon 90 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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