ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.43C>G (p.Leu15Val)

gnomAD frequency: 0.00001  dbSNP: rs931865828
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000802537 SCV000942373 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 23 of the NTHL1 protein (p.Leu23Val). 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: 647913). 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 RCV002360957 SCV002666295 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-30 criteria provided, single submitter clinical testing The p.L23V variant (also known as c.67C>G), located in coding exon 1 of the NTHL1 gene, results from a C to G substitution at nucleotide position 67. The leucine at codon 23 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004569589 SCV005053729 uncertain significance Familial adenomatous polyposis 3 2024-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000802537 SCV005371799 uncertain significance not provided 2023-07-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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