ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)

dbSNP: rs1597461100
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Total submissions: 3
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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 RCV000824865 SCV000965768 likely pathogenic KBG syndrome 2016-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001090543 SCV001246148 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV000824865 SCV004013767 pathogenic KBG syndrome criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. The variant is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000666326). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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