ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1072G>A (p.Ala358Thr)

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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 RCV002590269 SCV002951969 uncertain significance DiGeorge syndrome 2022-01-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 349 of the TBX1 protein (p.Ala349Thr). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. 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. 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.
Ambry Genetics RCV004990795 SCV005519520 uncertain significance Cardiovascular phenotype 2024-08-31 criteria provided, single submitter clinical testing The p.A349T variant (also known as c.1045G>A), located in coding exon 8 of the TBX1 gene, results from a G to A substitution at nucleotide position 1045. The alanine at codon 349 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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