ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.284del (p.Leu95fs) (rs757865122)

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
Illumina Clinical Services Laboratory,Illumina RCV000779199 SCV000915734 uncertain significance Congenital disorder of glycosylation, type Ia 2018-10-10 criteria provided, single submitter clinical testing The PMM2 c.284delT (p.Leu95GlnfsTer5) variant results in a frameshift and is predicted to result in an absent or truncated protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Leu95GlnfsTer5 variant is reported at a frequency of 0.000027 in the European (non-Finnish) population of the Genome Aggregation Database. Due to the potential impact of frameshift variants and the lack of clarifying evidence, the p.Leu95GlnfsTer5 variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital disorders of glycosylation. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.