ClinVar Miner

Submissions for variant NM_004655.4(AXIN2):c.774G>A (p.Thr258=)

gnomAD frequency: 0.00002  dbSNP: rs776060531
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887739 SCV001031319 likely benign Oligodontia-cancer predisposition syndrome 2021-04-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409135 SCV002672168 likely benign Hereditary cancer-predisposing syndrome 2020-09-22 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.
Myriad Genetics, Inc. RCV000887739 SCV005082426 benign Oligodontia-cancer predisposition syndrome 2024-06-27 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.

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