ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.653_654dup (p.Gln219fs)

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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 RCV004795268 SCV005415413 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2024-11-27 criteria provided, single submitter clinical testing This variant was detected in a male with intellectual disability, macrocephaly. The variant was confirmed to be of a de novo origin. Rare truncating variants affecting the GATAD2B gene are well documented as a molecular cause of "GAND syndrome" (OMIM:615074) (PMID:28077840;23644463;31205050;31949314). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PS2).

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