ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1927G>T (p.Ala643Ser)

dbSNP: rs748005374
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476260 SCV000548665 uncertain significance Oligodontia-cancer predisposition syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 643 of the AXIN2 protein (p.Ala643Ser). This variant is present in population databases (rs748005374, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with AXIN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 408854). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt AXIN2 protein function. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002230372 SCV002511693 uncertain significance not specified 2022-04-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257723 SCV002537119 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-15 criteria provided, single submitter curation
GeneDx RCV002286736 SCV002577152 uncertain significance not provided 2022-03-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 15735151)
Ambry Genetics RCV002257723 SCV002720697 benign Hereditary cancer-predisposing syndrome 2024-02-26 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.

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