ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.165A>T (p.Arg55Ser)

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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 RCV002408185 SCV002719228 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-01 criteria provided, single submitter clinical testing The p.R63S variant (also known as c.189A>T), located in coding exon 2 of the NTHL1 gene, results from an A to T substitution at nucleotide position 189. The arginine at codon 63 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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