ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.442G>T (p.Ala148Ser)

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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 RCV004652548 SCV005140432 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-18 criteria provided, single submitter clinical testing The p.A156S variant (also known as c.466G>T), located in coding exon 3 of the NTHL1 gene, results from a G to T substitution at nucleotide position 466. The alanine at codon 156 is replaced by serine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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