ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.832G>C (p.Gly278Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002746308 SCV003010170 uncertain significance not provided 2023-01-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 286 of the NTHL1 protein (p.Gly286Arg). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. 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.
Ambry Genetics RCV003367871 SCV004056944 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-11 criteria provided, single submitter clinical testing The p.G286R variant (also known as c.856G>C), located in coding exon 6 of the NTHL1 gene, results from a G to C substitution at nucleotide position 856. The glycine at codon 286 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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.

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