ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1196G>C (p.Gly399Ala)

gnomAD frequency: 0.00001  dbSNP: rs1274082696
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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 RCV002041981 SCV002107893 uncertain significance DiGeorge syndrome 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 390 of the TBX1 protein (p.Gly390Ala). This variant is not present in population databases (gnomAD no frequency). 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: 1350598). 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 tolerated. 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.
PreventionGenetics, part of Exact Sciences RCV004743594 SCV005348937 uncertain significance TBX1-related disorder 2024-06-21 no assertion criteria provided clinical testing The TBX1 c.1169G>C variant is predicted to result in the amino acid substitution p.Gly390Ala. To our knowledge, this variant has not been reported in the literature or in the gnomAD v2.1.1 population database cited in the table above. However, it has been reported in 13 alleles in the larger gnomAD v4.1.0 database. Although we suspect that this variant may be benign, 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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