ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1624T>C (p.Phe542Leu)

dbSNP: rs771197210
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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 RCV001048481 SCV001212490 uncertain significance Oligodontia-cancer predisposition syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 542 of the AXIN2 protein (p.Phe542Leu). The phenylalanine residue is weakly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002400274 SCV002705469 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-09 criteria provided, single submitter clinical testing The p.F542L variant (also known as c.1624T>C), located in coding exon 5 of the AXIN2 gene, results from a T to C substitution at nucleotide position 1624. The phenylalanine at codon 542 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and leucine is the reference amino acid in other 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.
Baylor Genetics RCV004570167 SCV005053144 uncertain significance Colorectal cancer 2024-03-12 criteria provided, single submitter clinical testing

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