ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.545T>C (p.Leu182Pro)

dbSNP: rs747561539
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
Neuberg Centre For Genomic Medicine, NCGM RCV001823550 SCV002073065 uncertain significance ALG3-congenital disorder of glycosylation criteria provided, single submitter clinical testing The missense variant p.L182P in ALG3 (NM_005787.6) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.L182P variant is observed in 1/34,462 (0.0029%) alleles from individuals of Latino background in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes.The p.L182P missense variant is predicted to be damaging by both SIFT and PolyPhen2. The leucine residue at codon 182 of ALG3 is conserved in all mammalian species. The nucleotide c.545 in ALG3 is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as 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.