ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.2012G>C (p.Arg671Pro)

dbSNP: rs765845684
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000227969 SCV000288688 uncertain significance Oligodontia-cancer predisposition syndrome 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 671 of the AXIN2 protein (p.Arg671Pro). This variant is present in population databases (rs765845684, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with colorectal cancer (PMID: 33359728). ClinVar contains an entry for this variant (Variation ID: 240006). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV000482682 SCV000570477 uncertain significance not provided 2023-10-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with colorectal cancer in published literature (PMID: 33359728); This variant is associated with the following publications: (PMID: 15735151, 33359728)
Baylor Genetics RCV000227969 SCV001481458 uncertain significance Oligodontia-cancer predisposition syndrome 2020-04-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002257570 SCV002537139 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-29 criteria provided, single submitter curation
Ambry Genetics RCV002257570 SCV002723648 benign Hereditary cancer-predisposing syndrome 2024-04-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482682 SCV004219231 likely benign not provided 2022-09-15 criteria provided, single submitter clinical testing

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