ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2329_2332del (p.Glu777fs)

dbSNP: rs2034485034
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268784 SCV001447965 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Genome Medicine, Institute for Basic Research in Developmental Disabilities RCV002275334 SCV002562760 pathogenic KBG syndrome criteria provided, single submitter clinical testing KBG syndrome
Genetics and Molecular Pathology, SA Pathology RCV002275334 SCV004175524 pathogenic KBG syndrome 2023-06-13 criteria provided, single submitter clinical testing The ANKRD11 c.2329_2332del variant is classified as Pathogenic (PVS1, PS4_Supporting, PM2) This ANKRD11 c.2329_2332del variant is located in exon 9/13 and is predicted to cause a shift in the reading frame at codon 777, leading to the introduction of a premature stop codon (PVS1). The variant has been reported once in a proband with a clinical presentation of KBG Syndrome (PMID:35970914) (PS4_Supporting). This variant is absent from population databases (PM2). The variant has been reported in the HGMD database: CD2216935 and has been reported as Pathogenic by other diagnostic laboratories (ClinVar Variation ID: 987422). It has not been reported in dbSNP.

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