ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1338C>A (p.Val446=)

dbSNP: rs369864600
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000234248 SCV000288653 likely benign Oligodontia-cancer predisposition syndrome 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001697232 SCV000525136 likely benign not provided 2021-04-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010837 SCV001171091 likely benign Hereditary cancer-predisposing syndrome 2019-02-07 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001824701 SCV002074522 likely benign not specified 2022-01-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001697232 SCV004218972 benign not provided 2023-06-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000234248 SCV005403151 benign Oligodontia-cancer predisposition syndrome 2024-07-02 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV004541419 SCV004776216 likely benign AXIN2-related disorder 2020-01-23 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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