ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.343G>A (p.Ala115Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003471615 SCV004192170 uncertain significance Familial adenomatous polyposis 3 2023-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004364789 SCV005019818 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-22 criteria provided, single submitter clinical testing The p.A123T variant (also known as c.367G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 367. The alanine at codon 123 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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