ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.727del (p.Val243fs)

dbSNP: rs2146528200
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001963224 SCV002241004 pathogenic Holocarboxylase synthetase deficiency 2022-02-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This premature translational stop signal has been observed in individual(s) with multiple carboxylase deficiency (PMID: 32219826). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val96Leufs*162) in the HLCS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HLCS are known to be pathogenic (PMID: 16134170).
Baylor Genetics RCV001963224 SCV004199864 pathogenic Holocarboxylase synthetase deficiency 2023-03-04 criteria provided, single submitter clinical testing

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.