ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.317G>A (p.Gly106Glu)

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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 RCV003563695 SCV004312663 uncertain significance not provided 2023-08-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with NTHL1-related conditions. 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 114 of the NTHL1 protein (p.Gly114Glu).
Ambry Genetics RCV004654265 SCV005140452 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-01 criteria provided, single submitter clinical testing The p.G114E variant (also known as c.341G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 341. The glycine at codon 114 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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