ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.495G>A (p.Ser165=)

dbSNP: rs1254077652
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 RCV001232946 SCV001405522 uncertain significance Holocarboxylase synthetase deficiency 2021-08-31 criteria provided, single submitter clinical testing This sequence change affects codon 18 of the HLCS mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the HLCS protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with HLCS-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001232946 SCV002083750 uncertain significance Holocarboxylase synthetase deficiency 2020-03-24 no assertion criteria provided 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.