ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.29C>T (p.Thr10Ile)

dbSNP: rs370539291
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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 RCV001933063 SCV002196482 uncertain significance not provided 2024-05-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 18 of the NTHL1 protein (p.Thr18Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1415393). 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.
Ambry Genetics RCV002344032 SCV002650988 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-25 criteria provided, single submitter clinical testing The p.T18I variant (also known as c.53C>T), located in coding exon 1 of the NTHL1 gene, results from a C to T substitution at nucleotide position 53. The threonine at codon 18 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well 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 RCV004571608 SCV005053755 uncertain significance Familial adenomatous polyposis 3 2023-11-17 criteria provided, single submitter clinical testing

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