ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.196G>A (p.Glu66Lys)

dbSNP: rs2144589822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763012 SCV001989082 uncertain significance not provided 2021-04-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22810696)
Undiagnosed Diseases Network, NIH RCV002280188 SCV002568417 uncertain significance AXIN2-related disorder 2022-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002539892 SCV003242027 uncertain significance Oligodontia-cancer predisposition syndrome 2021-12-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 66 of the AXIN2 protein (p.Glu66Lys). This variant is not present in population databases (gnomAD no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1303554). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions.

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