ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter) (rs1064793539)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000824827 SCV000965716 likely pathogenic KBG syndrome 2015-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000479193 SCV000566366 pathogenic not provided 2016-06-24 criteria provided, single submitter clinical testing The Y1028X variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y1028X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret Y1028X as a pathogenic variant.

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