ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.519C>G (p.Phe173Leu)

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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 RCV003293267 SCV004008706 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-26 criteria provided, single submitter clinical testing The p.F181L variant (also known as c.543C>G), located in coding exon 3 of the NTHL1 gene, results from a C to G substitution at nucleotide position 543. The phenylalanine at codon 181 is replaced by leucine, an amino acid with highly similar 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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