ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.1545C>T (p.Ser515=)

gnomAD frequency: 0.00007  dbSNP: rs186780790
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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 RCV000463048 SCV000562259 benign Aortic valve disease 2 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402363 SCV002705108 likely benign Cardiovascular phenotype 2016-01-08 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.
PreventionGenetics, part of Exact Sciences RCV003942569 SCV004761294 likely benign TBX5-related disorder 2019-02-22 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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