ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.926G>A (p.Arg309His)

dbSNP: rs2131810674
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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 Human Genetics, University of Leipzig Medical Center RCV001374635 SCV001571225 likely pathogenic Intellectual disability, autosomal dominant 30 2021-04-13 criteria provided, single submitter clinical testing de novo in an individual with Seizure/epilepsy/Rx: Atypical Benign Partial Epilepsy onset 2y 9mo. Atypical absences with eyelid myoclonia, atonic seizures, focal limb and face myoclonias, non-convulsive status epilepticus, generalised tonic-clonic seizure. EEG: 3y 2mo: Bursts of 2.5 Hz bilateral, frontal predominant spike-waves, along with eyelid myoclonias and slow head drops (atypical absences). Normal background. 3y 11mo: Irritative activity, bilateral, left predominant, left hemispheric intermittent slowing, eyelid myoclonias, subcontinuous spike and wave during sleep.Neuropsych/development: 5yo F. infantile hypotonia, delayed motor development, expressive language difficulties. Normocephalic.. No autism or behavioural problems. Normal MRI. See details in main text.Dysmorphism: Mild hypertelorism, short philtrum, hypoplastic teeth, left divergent strabismus
GeneDx RCV001664856 SCV001874729 likely pathogenic not provided 2024-05-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34216016)
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein RCV001374635 SCV005873564 likely pathogenic Intellectual disability, autosomal dominant 30 2023-09-26 no assertion criteria provided clinical testing

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