ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)

gnomAD frequency: 0.00001  dbSNP: rs760169368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002343591 SCV002646255 uncertain significance Cardiovascular phenotype 2020-08-25 criteria provided, single submitter clinical testing The p.P178L variant (also known as c.533C>T), located in coding exon 3 of the TBX20 gene, results from a C to T substitution at nucleotide position 533. The proline at codon 178 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002477671 SCV002787370 uncertain significance Atrial septal defect 4 2021-08-09 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV000770950 SCV000854412 uncertain significance Aortic valve disease 1 2018-11-14 no assertion criteria provided research

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