ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.729G>C (p.Trp243Cys)

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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 RCV004638784 SCV005140444 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-22 criteria provided, single submitter clinical testing The p.W251C variant (also known as c.753G>C), located in coding exon 5 of the NTHL1 gene, results from a G to C substitution at nucleotide position 753. The tryptophan at codon 251 is replaced by cysteine, an amino acid with highly 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 alteration remains unclear.

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