ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)

gnomAD frequency: 0.00003  dbSNP: rs200191497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454536 SCV000539077 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Jara-Prado-2012 reported a R182L or R182C (typo?) variant in 1/41 patients with juvenile myoclonic epilepsy (different transcript). The variant was also present in asymptomatic father.
Invitae RCV003766473 SCV000932372 likely benign Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 2020-08-06 criteria provided, single submitter clinical testing

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