ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.1491C>T (p.Cys497=)

gnomAD frequency: 0.00024  dbSNP: rs150292240
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001705551 SCV000512224 likely benign not provided 2019-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000462066 SCV000559514 likely benign Oligodontia-cancer predisposition syndrome 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV001011850 SCV001172223 likely benign Hereditary cancer-predisposing syndrome 2019-04-03 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.
Sema4, Sema4 RCV001011850 SCV002537070 likely benign Hereditary cancer-predisposing syndrome 2021-11-22 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002271496 SCV002556014 likely benign not specified 2022-06-20 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000462066 SCV005407352 benign Oligodontia-cancer predisposition syndrome 2024-07-03 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 RCV004737465 SCV005352754 likely benign AXIN2-related disorder 2024-09-23 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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