ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) (rs34901902)

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 RCV000674766 SCV000800159 likely pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000674766 SCV001578950 pathogenic Mucolipidosis type II; Pseudo-Hurler polydystrophy 2020-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser685Lysfs*61) in the GNPTAB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of mucolipidosis type III alpha (PMID: 16465621). This variant is also known as 2215_2219delACTCA in the literature. ClinVar contains an entry for this variant (Variation ID: 38417). Loss-of-function variants in GNPTAB are known to be pathogenic (PMID: 19617216, 25107912). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000031971 SCV000054665 pathologic Mucopolysaccharidosis, MPS-III-A 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.