ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.480T>A (p.Asp160Glu)

gnomAD frequency: 0.00001  dbSNP: rs778041960
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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 RCV001364717 SCV001560880 uncertain significance DiGeorge syndrome 2020-05-04 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. 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"). This variant has not been reported in the literature in individuals with TBX1-related conditions. This sequence change replaces aspartic acid with glutamic acid at codon 151 of the TBX1 protein (p.Asp151Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is present in population databases (rs778041960, ExAC 0.01%).
PreventionGenetics, part of Exact Sciences RCV004743433 SCV005359296 uncertain significance TBX1-related disorder 2024-06-06 no assertion criteria provided clinical testing The TBX1 c.453T>A variant is predicted to result in the amino acid substitution p.Asp151Glu. This variant has been reported in an individual with schizophrenia (Ping et al. 2016. PubMed ID: 27879657). This variant is reported in 0.016% of alleles in individuals of East Asian descent in gnomAD. 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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