ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.10C>G (p.Leu4Val)

gnomAD frequency: 0.00002  dbSNP: rs574280149
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512836 SCV000608552 uncertain significance not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV001087790 SCV001107447 benign Sphingolipid activator protein 1 deficiency 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960205 SCV004768595 likely benign PSAP-related disorder 2020-04-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001834647 SCV002088155 benign Metachromatic leukodystrophy 2020-01-17 no assertion criteria provided 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.