ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.737A>C (p.Lys246Thr)

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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 RCV003368199 SCV004056930 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-22 criteria provided, single submitter clinical testing The p.K254T variant (also known as c.761A>C), located in coding exon 5 of the NTHL1 gene, results from an A to C substitution at nucleotide position 761. The lysine at codon 254 is replaced by threonine, an amino acid with 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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