ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1724G>A (p.Cys575Tyr)

dbSNP: rs2132045760
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001374631 SCV001571227 likely pathogenic Intellectual disability, autosomal dominant 30 2021-04-13 no assertion criteria provided clinical testing de novo variant in an individual with Seizure/epilepsy/Rx: Focal dyscognitive seizures, onset 5 years. LEV effective. EEG: Occasional spike and wave discharges mid and left parietal region.Neuropsych/development: ASD, moderate LD, aggressive behaviour; hypotonia, abnormal gait, scoliosis, neurogenic bladder; MRI mild cerebellar tonsillar ectopia.Dysmorphism: NoneSomatic: Recurrent skin and respiratory infections; hypoplastic thoracic vertebra.

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