ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4649del (p.Asn1550fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004795255 SCV005415400 pathogenic KBG syndrome 2024-11-27 criteria provided, single submitter clinical testing This variant was detected in a male with intellectual disability, short stature, facial dysmorphism. The variant was confirmed to be of a de novo origin. Rare variants affecting the ANKRD11 gene are documented as a molecular cause of autosomal dominant "KBG syndrome" (OMIM:148050) (PMID:21782149;29258554;25125236;25413698). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PS2).

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