ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.495C>T (p.Gly165=)

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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 RCV002338565 SCV002643784 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-28 criteria provided, single submitter clinical testing The c.519C>T variant (also known as p.G173G), located in coding exon 3 of the NTHL1 gene, results from a C to T substitution at nucleotide position 519. This nucleotide substitution does not change the glycine at codon 173. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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