ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2037C>G (p.Phe679Leu)

dbSNP: rs1165276318
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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 RCV001314776 SCV001505324 uncertain significance Oligodontia-cancer predisposition syndrome 2023-04-06 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 679 of the AXIN2 protein (p.Phe679Leu). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. 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. 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. ClinVar contains an entry for this variant (Variation ID: 1015856).
Sema4, Sema4 RCV002258193 SCV002537142 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Ambry Genetics RCV002258193 SCV002720251 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-18 criteria provided, single submitter clinical testing The p.F679L variant (also known as c.2037C>G), located in coding exon 7 of the AXIN2 gene, results from a C to G substitution at nucleotide position 2037. The phenylalanine at codon 679 is replaced by leucine, an amino acid with highly similar 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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