ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp)

dbSNP: rs775169672
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001240928 SCV001413911 uncertain significance Sphingolipid activator protein 1 deficiency 2019-12-05 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 374 of the PSAP protein (p.Glu374Asp). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is present in population databases (rs775169672, ExAC 0.002%). This variant has not been reported in the literature in individuals with PSAP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828962 SCV002087008 uncertain significance Metachromatic leukodystrophy 2021-01-12 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.