ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2693del (p.Lys898fs) (rs281864999)

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
Counsyl RCV000673774 SCV000799017 likely pathogenic I cell disease; Pseudo-Hurler polydystrophy 2018-04-04 criteria provided, single submitter clinical testing
GeneReviews RCV000032323 SCV000055968 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000032323 SCV000699478 pathogenic Pseudo-Hurler polydystrophy 2016-07-28 criteria provided, single submitter clinical testing Variant summary: The GNPTAB c.2693delA (p.Lys898Serfs) variant results in a premature termination codon, predicted to cause a truncated or absent GNPTAB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not found in controls (ExAC, 1000 Gs or ESP) and has been reported in one affected individual who was diagnosed with ML III and was compound heterozygous for the variant of interest and an exon 2 duplication. GeneReviews classifies the variant as "pathogenic." Therefore, taking all available lines of evidence into consideration the varinat of interest has been classified as Pathogenic.

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.