ClinVar Miner

Submissions for variant NM_005660.3(SLC35A2):c.523C>T (p.Leu175Phe)

dbSNP: rs1283637638
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000691195 SCV000818942 pathogenic SLC35A2-congenital disorder of glycosylation 2020-07-15 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 175 of the SLC35A2 protein (p.Leu175Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals with SLC35A2-CDG (PMID: 30653653, 30817854). In at least one individual the variant was observed to be de novo.
Fulgent Genetics, Fulgent Genetics RCV000691195 SCV000897572 uncertain significance SLC35A2-congenital disorder of glycosylation 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.