ClinVar Miner

Submissions for variant NM_058179.4(PSAT1):c.107del (p.Gly36fs)

dbSNP: rs587777747
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
Invitae RCV003586120 SCV004294332 pathogenic Neu-Laxova syndrome 2 2023-06-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1081). This variant is also known as c.delG107. This premature translational stop signal has been observed in individual(s) with phosphoserine aminotransferase deficiency (PMID: 17436247). This variant is present in population databases (rs774147367, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Gly36Alafs*7) in the PSAT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PSAT1 are known to be pathogenic (PMID: 17436247, 25152457).
OMIM RCV000001136 SCV000021286 pathogenic PSAT deficiency 2007-05-01 no assertion criteria provided literature only
Dudley Research Group, Pacific Northwest Research Institute RCV001254415 SCV001430392 not provided not provided no assertion provided research

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.