ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.236C>T (p.Thr79Ile)

dbSNP: rs1202629263
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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 RCV001362736 SCV001558768 uncertain significance Oligodontia-cancer predisposition syndrome 2023-07-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1054259). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 79 of the AXIN2 protein (p.Thr79Ile). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt AXIN2 protein function. 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 RCV003355433 SCV004054946 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-24 criteria provided, single submitter clinical testing The p.T79I variant (also known as c.236C>T), located in coding exon 1 of the AXIN2 gene, results from a C to T substitution at nucleotide position 236. The threonine at codon 79 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV004570881 SCV005053182 uncertain significance Colorectal cancer 2024-01-31 criteria provided, single submitter clinical testing

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