ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.623C>T (p.Ala208Val) (rs201531372)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115879 SCV000149788 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing This variant is denoted AXIN2 c.623C>T at the cDNA level, p.Ala208Val (A208V) at the protein level, and results in the change of an Alanine to a Valine (GCT>GTT). This variant has been reported in at least one individual suspected of having Lynch syndrome (Vargas-Parra 2017). AXIN2 Ala208Val was observed at an allele frequency of 0.08% (25/30,782) in individuals of South Asian ancestry in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether AXIN2 Ala208Val is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000228466 SCV000288717 likely benign Oligodontia-colorectal cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000228466 SCV000405748 benign Oligodontia-colorectal cancer syndrome 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000115879 SCV001151407 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025033 SCV001187145 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-07 criteria provided, single submitter clinical testing Insufficient evidence

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