ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.396C>A (p.Ser132Arg)

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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 RCV002327925 SCV002627329 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-15 criteria provided, single submitter clinical testing The p.S140R variant (also known as c.420C>A), located in coding exon 3 of the NTHL1 gene, results from a C to A substitution at nucleotide position 420. The serine at codon 140 is replaced by arginine, an amino acid with dissimilar 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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