ClinVar Miner

Submissions for variant NM_024105.4(ALG12):c.1001del (p.Asn334fs) (rs759244819)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000234879 SCV000267591 pathogenic ALG12-congenital disorder of glycosylation 2014-04-01 criteria provided, single submitter clinical testing This variant was found in trans with pathogenic variant NM_024105.3:c.117delG in an individual with congenital disorder of glycosylation type Ig.
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000234879 SCV001443732 pathogenic ALG12-congenital disorder of glycosylation 2019-11-07 criteria provided, single submitter clinical testing This frameshifting variant in exon 8 of 10 introduces a premature stop codon and is therefore predicted to result in loss of normal protein function. This variant has been previously reported as a compound heterozygous change in patients with Congenital disorder of glycosylation type Ig (PMID: 25019053). It is present in the heterozygous state in the gnomAD population database at a frequency of 0.0052% (13/251142) and thus is presumed to be rare. Based on the available evidence, the c.1001del (p.Asn334ThrfsTer15) variant is classified as Pathogenic.
Baylor Genetics RCV000234879 SCV001526953 pathogenic ALG12-congenital disorder of glycosylation 2018-09-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000234879 SCV001259211 pathogenic ALG12-congenital disorder of glycosylation 2020-05-21 no assertion criteria provided literature only

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.