ClinVar Miner

Submissions for variant NM_181486.4(TBX5):c.1157C>A (p.Pro386His)

dbSNP: rs771857554
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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 RCV002178849 SCV002471273 benign Aortic valve disease 2 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002352939 SCV002622843 likely benign Cardiovascular phenotype 2018-01-29 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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