ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.298G>A (p.Ala100Thr)

gnomAD frequency: 0.00003  dbSNP: rs772576699
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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 RCV001058068 SCV001222607 uncertain significance not provided 2024-09-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 108 of the NTHL1 protein (p.Ala108Thr). This variant is present in population databases (rs772576699, gnomAD 0.002%). 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: 853288). 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.
Sema4, Sema4 RCV002258117 SCV002528955 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-19 criteria provided, single submitter curation
Ambry Genetics RCV002258117 SCV002611396 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-31 criteria provided, single submitter clinical testing The p.A108T variant (also known as c.322G>A), located in coding exon 2 of the NTHL1 gene, results from a G to A substitution at nucleotide position 322. The alanine at codon 108 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV003467788 SCV004192158 uncertain significance Familial adenomatous polyposis 3 2024-02-13 criteria provided, single submitter clinical testing

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