ClinVar Miner

Submissions for variant NM_152906.7(TANGO2):c.605+1G>A (rs372949028)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000210035 SCV000245442 pathogenic Cardiac arrhythmia; Seizures; Intellectual disability; Episodic flaccid weakness; Acute rhabdomyolysis 2015-09-01 criteria provided, single submitter clinical testing Pathogenicity based on finding it once homozygous in a 1-year-old male with episodic metabolic crises, developmental delay, hypotonia
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000210343 SCV000996055 pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2017-01-27 criteria provided, single submitter clinical testing The c.605+1G>A variant is a canonical splice site variant that is predicted to result in aberrant splicing. It has been previously reported in the homozygous state in a patient with MECRCN (PMID: 26805781). This variant has been reported in one Latino and five South Asian individuals in the ExAC database, with an overall allele frequency of 0.0003192. Thus it is presumed to be rare. This genomic position is well conserved. Based on the combined evidence, the c.605+1G>A variant is classified as pathogenic.
OMIM RCV000210343 SCV000266383 pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2019-05-09 no assertion criteria provided literature only
GeneReviews RCV000210343 SCV000899269 pathogenic Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 2018-02-12 no assertion criteria provided literature only

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.