ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)

gnomAD frequency: 0.00001  dbSNP: rs757648761
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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 RCV001487091 SCV001691575 likely benign DiGeorge syndrome 2024-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000900570 SCV001772164 uncertain significance not provided 2023-03-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002354732 SCV002658790 uncertain significance Cardiovascular phenotype 2024-05-04 criteria provided, single submitter clinical testing The p.P405S variant (also known as c.1213C>T), located in coding exon 8 of the TBX1 gene, results from a C to T substitution at nucleotide position 1213. The proline at codon 405 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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