ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.434G>C (p.Arg145Pro)

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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 RCV004945350 SCV005462473 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-15 criteria provided, single submitter clinical testing The p.R153P variant (also known as c.458G>C), located in coding exon 3 of the NTHL1 gene, results from a G to C substitution at nucleotide position 458. The arginine at codon 153 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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