ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.382C>G (p.Leu128Val)

dbSNP: rs1433716256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058306 SCV001222866 uncertain significance not provided 2024-10-24 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 136 of the NTHL1 protein (p.Leu136Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 853491). 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. RNA analysis performed to evaluate the impact of this missense change on mRNA splicing indicates it does not significantly alter splicing (internal data). 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 RCV002320308 SCV002631990 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-26 criteria provided, single submitter clinical testing The p.L136V variant (also known as c.406C>G), located in coding exon 3 of the NTHL1 gene, results from a C to G substitution at nucleotide position 406. The leucine at codon 136 is replaced by valine, 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.
Baylor Genetics RCV003467789 SCV004192095 uncertain significance Familial adenomatous polyposis 3 2023-10-16 criteria provided, single submitter clinical testing

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