ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.586A>G (p.Ile196Val)

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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 RCV002360205 SCV002658117 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-19 criteria provided, single submitter clinical testing The p.I204V variant (also known as c.610A>G), located in coding exon 4 of the NTHL1 gene, results from an A to G substitution at nucleotide position 610. The isoleucine at codon 204 is replaced by valine, 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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