ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.856C>T (p.His286Tyr)

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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 RCV004516070 SCV005019801 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-23 criteria provided, single submitter clinical testing The p.H294Y variant (also known as c.880C>T), located in coding exon 6 of the NTHL1 gene, results from a C to T substitution at nucleotide position 880. The histidine at codon 294 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is conserved. 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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