ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.341C>T (p.Ala114Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002578483 SCV002942934 uncertain significance DiGeorge syndrome 2021-12-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 105 of the TBX1 protein (p.Ala105Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.

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