ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.791C>T (p.Thr264Met)

dbSNP: rs771809149
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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 RCV001325044 SCV001516017 uncertain significance Oligodontia-cancer predisposition syndrome 2021-06-21 criteria provided, single submitter clinical testing 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. 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 methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with AXIN2-related conditions. This variant is present in population databases (rs771809149, ExAC 0.001%). This sequence change replaces threonine with methionine at codon 264 of the AXIN2 protein (p.Thr264Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine.
Ambry Genetics RCV002418975 SCV002676533 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-26 criteria provided, single submitter clinical testing The p.T264M variant (also known as c.791C>T), located in coding exon 1 of the AXIN2 gene, results from a C to T substitution at nucleotide position 791. The threonine at codon 264 is replaced by methionine, an amino acid with similar properties. This amino acid position is not 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998827 SCV005624981 uncertain significance not provided 2024-01-09 criteria provided, single submitter clinical testing

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