ClinVar Miner

Submissions for variant NC_000022.11:g.(?_49903818)_(49907964_?)del

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 RCV000819226 SCV000959873 uncertain significance ALG12-congenital disorder of glycosylation 2018-09-14 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 7-10 of the ALG12 gene. The 5' boundary is likely confined to intron 6. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with ALG12-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. The observation of one or more missense substitutions downstream of this variant (p.Ser275Asn and p.Arg311Cys) in affected individuals suggests that this may be a clinically significant region of the ALG12 protein (PMID: 15639192). 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.

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.