ClinVar Miner

Submissions for variant NM_002528.7(NTHL1):c.649G>A (p.Ala217Thr)

gnomAD frequency: 0.00001  dbSNP: rs758319892
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025598 SCV001187820 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-23 criteria provided, single submitter clinical testing The p.A225T variant (also known as c.673G>A), located in coding exon 4 of the NTHL1 gene, results from a G to A substitution at nucleotide position 673. The alanine at codon 225 is replaced by threonine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001058023 SCV001222558 uncertain significance not provided 2024-11-28 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 225 of the NTHL1 protein (p.Ala225Thr). This variant is present in population databases (rs758319892, gnomAD 0.02%). 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: 826591). 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.
Sema4, Sema4 RCV001025598 SCV002529005 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter curation
Baylor Genetics RCV004570053 SCV005053760 uncertain significance Familial adenomatous polyposis 3 2023-11-02 criteria provided, single submitter clinical testing

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