ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1049C>T (p.Pro350Leu)

dbSNP: rs1434576661
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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 RCV000796899 SCV000936433 uncertain significance Oligodontia-cancer predisposition syndrome 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 350 of the AXIN2 protein (p.Pro350Leu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 643236). 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 expected to disrupt AXIN2 protein function with a positive 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 RCV002388444 SCV002703709 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-29 criteria provided, single submitter clinical testing The p.P350L variant (also known as c.1049C>T), located in coding exon 3 of the AXIN2 gene, results from a C to T substitution at nucleotide position 1049. The proline at codon 350 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003472351 SCV004213116 uncertain significance Colorectal cancer 2024-01-04 criteria provided, single submitter clinical testing

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