ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.593A>C (p.Glu198Ala)

dbSNP: rs1555583360
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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 RCV000532225 SCV000639189 uncertain significance Oligodontia-cancer predisposition syndrome 2024-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 198 of the AXIN2 protein (p.Glu198Ala). 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: 464632). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) 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.
Ambry Genetics RCV002358500 SCV002647540 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-01 criteria provided, single submitter clinical testing The p.E198A variant (also known as c.593A>C), located in coding exon 1 of the AXIN2 gene, results from an A to C substitution at nucleotide position 593. The glutamic acid at codon 198 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Baylor Genetics RCV003476270 SCV004213123 uncertain significance Colorectal cancer 2023-05-26 criteria provided, single submitter clinical testing

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