ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.380C>T (p.Ala127Val)

dbSNP: rs1601283489
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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 RCV000816743 SCV000957266 uncertain significance DiGeorge syndrome 2018-12-04 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. This variant has not been reported in the literature in individuals with TBX1-related conditions. This sequence change replaces alanine with valine at codon 118 of the TBX1 protein (p.Ala118Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency).
PreventionGenetics, part of Exact Sciences RCV003396432 SCV004103458 uncertain significance TBX1-related disorder 2023-01-20 criteria provided, single submitter clinical testing The TBX1 c.353C>T variant is predicted to result in the amino acid substitution p.Ala118Val. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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