ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.896C>G (p.Pro299Arg)

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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 RCV003368203 SCV004056941 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-21 criteria provided, single submitter clinical testing The p.P307R variant (also known as c.920C>G), located in coding exon 6 of the NTHL1 gene, results from a C to G substitution at nucleotide position 920. The proline at codon 307 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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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