ClinVar Miner

Submissions for variant NM_003051.4(SLC16A1):c.499del (p.Val167fs)

dbSNP: rs606231301
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003156227 SCV003845809 likely pathogenic not provided 2022-09-23 criteria provided, single submitter clinical testing Identified as heterozygous in a child with multiple episodes of ketotic hypoglycemia, ketoacidosis, and ketonuria in published literature (van Hasselt et al., 2014); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25390740)
OMIM RCV000145412 SCV000192501 pathogenic Monocarboxylate transporter 1 deficiency, autosomal dominant 2014-11-13 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.