ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.14T>C (p.Met5Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003368311 SCV004054980 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The p.M5T variant (also known as c.14T>C), located in coding exon 1 of the AXIN2 gene, results from a T to C substitution at nucleotide position 14. The methionine at codon 5 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. 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 RCV004572942 SCV005053172 uncertain significance Colorectal cancer 2024-02-13 criteria provided, single submitter clinical testing

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