ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser)

gnomAD frequency: 0.00001  dbSNP: rs149287105
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001017611 SCV001178714 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-14 criteria provided, single submitter clinical testing The p.N279S variant (also known as c.836A>G), located in coding exon 6 of the NTHL1 gene, results from an A to G substitution at nucleotide position 836. The asparagine at codon 279 is replaced by serine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001067983 SCV001233070 uncertain significance not provided 2025-01-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 279 of the NTHL1 protein (p.Asn279Ser). This variant is present in population databases (rs149287105, gnomAD 0.003%). 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: 822331). 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.
GeneDx RCV001067983 SCV002000314 uncertain significance not provided 2021-12-20 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Sema4, Sema4 RCV001017611 SCV002529025 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-03 criteria provided, single submitter curation
Baylor Genetics RCV003467640 SCV004192168 uncertain significance Familial adenomatous polyposis 3 2023-05-30 criteria provided, single submitter clinical testing

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