ClinVar Miner

Submissions for variant NM_001083614.2(EARS2):c.1488+61del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002472113 SCV002768522 uncertain significance Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 2019-08-28 criteria provided, single submitter clinical testing A heterozygous deletion variant was identified, NM_001308211.1(EARS2):c.1549delC in exon 8 of 8 of the EARS2 gene (NB: This variant is non-coding in the predominant transcript, NM_001083614.1). This deletion is predicted to cause a frameshift from amino acid position 517 introducing a stop codon 15 residues downstream, NP_001295140.1(EARS2):p.(His517Ilefs*15), resulting in loss of normal protein function through truncation. The variant is not present in the gnomAD population database. It has not been previously observed in clinical cases. No additional variants also resulting in a premature stop codon have been reported downstream. Based on information available at the time of curation, this variant has been classified as a VARIANT of UNCERTAIN SIGNIFICANCE (VUS).

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.