ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.368A>C (p.Lys123Thr)

dbSNP: rs2044303118
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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 RCV001201513 SCV001372587 uncertain significance Oligodontia-cancer predisposition syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 123 of the AXIN2 protein (p.Lys123Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 933325). 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 not expected to disrupt AXIN2 protein function with a negative predictive value of 80%. 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.
Baylor Genetics RCV003473735 SCV004213013 uncertain significance Colorectal cancer 2023-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033501 SCV005022870 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-19 criteria provided, single submitter clinical testing The p.K123T variant (also known as c.368A>C), located in coding exon 1 of the AXIN2 gene, results from an A to C substitution at nucleotide position 368. The lysine at codon 123 is replaced by threonine, 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.

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