ClinVar Miner

Submissions for variant NM_013266.4(CTNNA3):c.165C>T (p.Ala55=)

gnomAD frequency: 0.00005  dbSNP: rs141527898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867394 SCV001008614 likely benign Arrhythmogenic right ventricular dysplasia 13 2023-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027698 SCV002706517 likely benign not specified 2019-05-19 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.

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