ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.692A>G (p.Asp231Gly)

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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 RCV004516065 SCV005019856 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-27 criteria provided, single submitter clinical testing The p.D239G variant (also known as c.716A>G), located in coding exon 5 of the NTHL1 gene, results from an A to G substitution at nucleotide position 716. The aspartic acid at codon 239 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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