ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.467T>G (p.Ile156Ser)

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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 RCV004945349 SCV005462472 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-15 criteria provided, single submitter clinical testing The p.I164S variant (also known as c.491T>G), located in coding exon 3 of the NTHL1 gene, results from a T to G substitution at nucleotide position 491. The isoleucine at codon 164 is replaced by serine, 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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