ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp)

gnomAD frequency: 0.00001  dbSNP: rs1285624591
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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 RCV001304317 SCV001493593 uncertain significance not provided 2025-01-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 40 of the NTHL1 protein (p.Arg40Trp). 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: 1007172). 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 RCV002341606 SCV002644016 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-01 criteria provided, single submitter clinical testing The p.R40W variant (also known as c.118C>T), located in coding exon 1 of the NTHL1 gene, results from a C to T substitution at nucleotide position 118. The arginine at codon 40 is replaced by tryptophan, an amino acid with dissimilar properties. This alteration was identified in an individual diagnosed with breast cancer (Li N et al. NPJ Breast Cancer, 2021 May;7:52). This amino acid position is not 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.
Fulgent Genetics, Fulgent Genetics RCV002504459 SCV002815359 uncertain significance Familial adenomatous polyposis 3 2021-10-14 criteria provided, single submitter clinical testing

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