ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.117C>G (p.Ile39Met)

dbSNP: rs1562569196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003611531 SCV004562464 uncertain significance Atrial septal defect 4 2023-08-23 criteria provided, single submitter clinical testing
GeneDx RCV005241397 SCV005888968 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing Reported in an individual with bicuspid aortic valve-related thoracic aortic aneurysm in published literature (PMID: 30820038); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30820038)
Centre of Medical Genetics, University of Antwerp RCV000770947 SCV000854409 uncertain significance Aortic valve disease 1 2018-11-14 no assertion criteria provided research

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