ClinVar Miner

Submissions for variant NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter)

gnomAD frequency: 0.00001  dbSNP: rs149998588
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187372 SCV000240957 pathogenic not provided 2013-01-17 criteria provided, single submitter clinical testing p.Arg538Stop (CGA>TGA): c.1612 C>T in exon 9 of the EFHC1 gene (NM_018100.3). The Arg538Stop nonsense mutation in the EFHC1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this mutation has not been reported previously to our knowledge, it is considered a disease-causing mutation. The variant is found in EPILEPSY panel(s).
Baylor Genetics RCV000679897 SCV000807320 pathogenic Juvenile myoclonic epilepsy 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory paternally inherited in a 15-year-old female with intellectual disability, epilepsy (first afebrile tonic/clonic seizures at 3y, subsided until 11 years), hypotonia. Father did not have epilepsy.
Illumina Laboratory Services, Illumina RCV000679897 SCV000915175 uncertain significance Juvenile myoclonic epilepsy 2018-12-06 criteria provided, single submitter clinical testing The EFHC1 c.1612C>T (p.Arg538Ter) variant is a stop gained variant predicted to result in premature termination of the protein. The p.Arg538Ter variant has not been reported in the literature in association with juvenile myoclonic epilepsy. Control data are unavailable for this variant, which is found at a frequency of 0.0004961 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for juvenile myoclonic epilepsy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.