ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe) (rs281865026)

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
Invitae RCV000820177 SCV000960877 pathogenic I cell disease; Pseudo-Hurler polydystrophy 2018-11-20 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 399 of the GNPTAB protein (p.Ser399Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with GNPTAB-related conditions (PMID: 16630736, 27710913, 19659762, 23566849). ClinVar contains an entry for this variant (Variation ID: 38413). This variant has been reported to affect GNPTAB protein function (PMID: 25505245, 24550498, 24375680). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000031967 SCV000054659 pathologic Pseudo-Hurler polydystrophy 2012-05-10 no assertion criteria provided curation Converted during submission to 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.