ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1433C>T (p.Ala478Val)

gnomAD frequency: 0.00002  dbSNP: rs757867291
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482540 SCV000574433 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001350118 SCV001544496 uncertain significance DiGeorge syndrome 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 469 of the TBX1 protein (p.Ala469Val). This variant is present in population databases (rs757867291, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TBX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 424609). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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