ClinVar Miner

Submissions for variant NC_000021.8:g.(?_44478245)_(44485815_?)del

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 RCV001390205 SCV001591846 pathogenic Classic homocystinuria 2020-06-07 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 6-15 of the CBS gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CBS-related conditions. Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120599 SCV003790216 pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED 2022-04-16 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6-15 of the CBS gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CBS are known to be pathogenic (PMID: 10338090, 12124992). This variant has not been reported in the literature in individuals affected with CBS-related conditions. For these reasons, this variant has been classified as Pathogenic.

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.