ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) (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,Klinikum rechts der Isar RCV000578422 SCV000680402 likely pathogenic Tetralogy of Fallot 2017-12-13 criteria provided, single submitter clinical testing
Invitae RCV000702287 SCV000831135 uncertain significance DiGeorge sequence 2018-08-16 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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). Experimental studies have shown that this missense change results in significantly reduced transcriptional activity compared to wild type TBX1 protein (PMID: 24998776, 28272434). 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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