ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.70T>C (p.Cys24Arg)

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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 RCV002374146 SCV002688402 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-16 criteria provided, single submitter clinical testing The p.C32R variant (also known as c.94T>C), located in coding exon 1 of the NTHL1 gene, results from a T to C substitution at nucleotide position 94. The cysteine at codon 32 is replaced by arginine, an amino acid with highly dissimilar 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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