ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys)

gnomAD frequency: 0.00094  dbSNP: rs61995921
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
Illumina Laboratory Services, Illumina RCV000660405 SCV000374576 uncertain significance ALG8 congenital disorder of glycosylation 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Mayo Clinic Laboratories, Mayo Clinic RCV000660405 SCV000782490 uncertain significance ALG8 congenital disorder of glycosylation 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV000660405 SCV001021906 likely benign ALG8 congenital disorder of glycosylation 2024-01-22 criteria provided, single submitter clinical testing
Revvity Omics, Revvity Omics RCV003137913 SCV003826173 uncertain significance not provided 2022-12-15 criteria provided, single submitter clinical testing
GeneDx RCV003137913 SCV004169548 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.