ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.841A>G (p.Thr281Ala)

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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 RCV003707952 SCV004479508 uncertain significance not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 289 of the NTHL1 protein (p.Thr289Ala). 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. 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 tolerated. 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 RCV004943198 SCV005462470 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-10 criteria provided, single submitter clinical testing The p.T289A variant (also known as c.865A>G), located in coding exon 6 of the NTHL1 gene, results from an A to G substitution at nucleotide position 865. The threonine at codon 289 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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