ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.638C>T (p.Ala213Val)

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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 RCV003877227 SCV004684339 uncertain significance DiGeorge syndrome 2023-03-06 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TBX1 protein function. This variant has not been reported in the literature in individuals affected with TBX1-related conditions. This variant is present in population databases (rs774388985, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 204 of the TBX1 protein (p.Ala204Val).

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