ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1254G>T (p.Glu418Asp)

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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 RCV003118888 SCV003787500 uncertain significance DiGeorge syndrome 2022-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBX1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 409 of the TBX1 protein (p.Glu409Asp).
Ambry Genetics RCV004245894 SCV005030272 uncertain significance Cardiovascular phenotype 2023-12-11 criteria provided, single submitter clinical testing The p.E409D variant (also known as c.1227G>T), located in coding exon 8 of the TBX1 gene, results from a G to T substitution at nucleotide position 1227. The glutamic acid at codon 409 is replaced by aspartic acid, an amino acid with highly 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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