ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.839A>G (p.Gln280Arg)

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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 RCV004638783 SCV005140431 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-23 criteria provided, single submitter clinical testing The p.Q288R variant (also known as c.863A>G), located in coding exon 6 of the NTHL1 gene, results from an A to G substitution at nucleotide position 863. The glutamine at codon 288 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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