ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.875G>T (p.Cys292Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002376312 SCV002683734 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-08 criteria provided, single submitter clinical testing The p.C300F variant (also known as c.899G>T), located in coding exon 6 of the NTHL1 gene, results from a G to T substitution at nucleotide position 899. The cysteine at codon 300 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005097301 SCV005788996 uncertain significance not provided 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 300 of the NTHL1 protein (p.Cys300Phe). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1765388). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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