ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.*7_*9del

dbSNP: rs201681436
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000185947 SCV001737831 benign not specified 2021-05-20 criteria provided, single submitter clinical testing Variant summary: HLCS c.*7_*9delGCG is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 0.0086 in 249008 control chromosomes in the gnomAD database, including 17 homozygotes. The observed variant frequency is approximately 3-fold of the estimated maximal expected allele frequency for a pathogenic variant in HLCS causing Holocarboxylase Synthetase Deficiency phenotype (0.0028), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.*7_*9delGCG in individuals affected with Holocarboxylase Synthetase Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. A ClinVar submitter (evaluation after 2014) cites the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
GeneDx RCV001675661 SCV001892825 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675661 SCV002544669 benign not provided 2024-03-01 criteria provided, single submitter clinical testing HLCS: BS1, BS2
GeneDx RCV000185947 SCV000238904 benign not specified 2014-04-02 flagged submission clinical testing The variant is found in MITONUC-MITOP panel(s).
Natera, Inc. RCV001273642 SCV001456934 benign Holocarboxylase synthetase deficiency 2020-09-16 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.