ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2237-56_2255del

dbSNP: rs2145732111
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
Invitae RCV001376817 SCV001573989 likely pathogenic Holocarboxylase synthetase deficiency 2019-09-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170). This variant has not been reported in the literature in individuals with HLCS-related conditions. This variant is not present in population databases (ExAC no frequency). This variant results in the deletion of part of exon 11 (c.1796-56_1814del) of the HLCS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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.