ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.807G>T (p.Glu269Asp)

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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 RCV003164926 SCV003856401 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-22 criteria provided, single submitter clinical testing The p.E277D variant (also known as c.831G>T), located in coding exon 6 of the NTHL1 gene, results from a G to T substitution at nucleotide position 831. The glutamic acid at codon 277 is replaced by aspartic acid, an amino acid with highly similar properties. 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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