ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.792G>C (p.Arg264Ser)

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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 RCV003182111 SCV003861412 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-04 criteria provided, single submitter clinical testing The p.R272S variant (also known as c.816G>C) is located in coding exon 6 of the NTHL1 gene. The arginine at codon 272 is replaced by serine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 6. 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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