ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2261C>T (p.Ala754Val)

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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 RCV002443752 SCV002737854 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-01 criteria provided, single submitter clinical testing The p.A754V variant (also known as c.2261C>T), located in coding exon 9 of the AXIN2 gene, results from a C to T substitution at nucleotide position 2261. The alanine at codon 754 is replaced by valine, 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.
Baylor Genetics RCV004571131 SCV005053201 uncertain significance Colorectal cancer 2024-01-03 criteria provided, single submitter clinical testing

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