ClinVar Miner

Submissions for variant NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) (rs1040190748)

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
Invitae RCV000651490 SCV000773342 uncertain significance Congenital disorder of deglycosylation 2020-10-14 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 546 of the NGLY1 protein (p.Ser546Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with NGLY1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734278 SCV000862404 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000651490 SCV000897082 uncertain significance Congenital disorder of deglycosylation 2018-10-31 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.