ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.795G>C (p.Glu265Asp)

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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 RCV002427889 SCV002679685 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-28 criteria provided, single submitter clinical testing The p.E273D variant (also known as c.819G>C), located in coding exon 6 of the NTHL1 gene, results from a G to C substitution at nucleotide position 819. The glutamic acid at codon 273 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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