ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)

gnomAD frequency: 0.00002  dbSNP: rs745858331
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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 RCV001400138 SCV001601941 likely benign DiGeorge syndrome 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV000983828 SCV001872910 uncertain significance not provided 2023-12-13 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 RCV003307785 SCV003993319 uncertain significance Cardiovascular phenotype 2023-05-30 criteria provided, single submitter clinical testing The p.E409G variant (also known as c.1226A>G), located in coding exon 8 of the TBX1 gene, results from an A to G substitution at nucleotide position 1226. The glutamic acid at codon 409 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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