ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)

dbSNP: rs900492387
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn RCV000856736 SCV000999283 pathogenic KBG syndrome criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV000856736 SCV001448622 pathogenic KBG syndrome 2020-11-11 criteria provided, single submitter clinical testing
GeneDx RCV001569459 SCV001793541 pathogenic not provided 2021-12-17 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30202406)
CeGaT Center for Human Genetics Tuebingen RCV001569459 SCV001961635 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001569459 SCV002010609 pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano RCV000856736 SCV002097354 pathogenic KBG syndrome 2021-11-01 criteria provided, single submitter research
Invitae RCV000856736 SCV002229446 pathogenic KBG syndrome 2023-03-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 694682). This premature translational stop signal has been observed in individuals with KBG syndrome (PMID: 30202406, 35682590). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg458*) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421).

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