ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.407A>C (p.Asp136Ala)

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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 RCV002332014 SCV002627658 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter clinical testing The p.D144A variant (also known as c.431A>C), located in coding exon 3 of the NTHL1 gene, results from an A to C substitution at nucleotide position 431. The aspartic acid at codon 144 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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