ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)

dbSNP: rs1445910672
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000578422 SCV000680402 likely pathogenic Tetralogy of Fallot 2017-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000702287 SCV000831135 uncertain significance DiGeorge syndrome 2018-08-14 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. Experimental studies have shown that this missense change results in significantly reduced transcriptional activity compared to wild type TBX1 protein (PMID: 24998776, 28272434). This variant has been observed to segregate with a TBX1-related disease in one family (Invitae). ClinVar contains an entry for this variant (Variation ID: 488618). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 129 of the TBX1 protein (p.Glu129Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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