ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.632C>G (p.Pro211Arg)

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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 RCV002364438 SCV002665972 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-17 criteria provided, single submitter clinical testing The p.P219R variant (also known as c.656C>G), located in coding exon 4 of the NTHL1 gene, results from a C to G substitution at nucleotide position 656. The proline at codon 219 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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