ClinVar Miner

Submissions for variant NM_005787.6(ALG3):c.890A>G (p.His297Arg)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002938671 SCV003271128 uncertain significance ALG3-congenital disorder of glycosylation 2022-07-09 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 297 of the ALG3 protein (p.His297Arg). This variant is present in population databases (rs557190648, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ALG3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004067205 SCV004888260 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.890A>G (p.H297R) alteration is located in exon 6 (coding exon 6) of the ALG3 gene. This alteration results from a A to G substitution at nucleotide position 890, causing the histidine (H) at amino acid position 297 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002938671 SCV005664998 uncertain significance ALG3-congenital disorder of glycosylation 2024-02-15 criteria provided, single submitter clinical testing

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.