ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser)

gnomAD frequency: 0.00003  dbSNP: rs143773764
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002541739 SCV003280149 uncertain significance Sphingolipid activator protein 1 deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 499 of the PSAP protein (p.Pro499Ser). This variant is present in population databases (rs143773764, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PSAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 991958). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Ambry Genetics RCV002542952 SCV003652315 uncertain significance Inborn genetic diseases 2024-11-10 criteria provided, single submitter clinical testing The c.1495C>T (p.P499S) alteration is located in exon 13 (coding exon 13) of the PSAP gene. This alteration results from a C to T substitution at nucleotide position 1495, causing the proline (P) at amino acid position 499 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280261 SCV001467426 uncertain significance Metachromatic leukodystrophy 2020-04-11 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.