ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.1394T>C (p.Phe465Ser)

dbSNP: rs1319643225
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 RCV001071343 SCV001236640 pathogenic Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-08-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SMPD1 protein function. ClinVar contains an entry for this variant (Variation ID: 864212). This variant is also known as g.3337T > C (F463S). This missense change has been observed in individual(s) with Niemann-Pick disease (PMID: 12556236, 22818240, 27338287, 33675270). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 465 of the SMPD1 protein (p.Phe465Ser).
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV001527428 SCV001738431 likely pathogenic Niemann-Pick disease, type A 2021-04-25 criteria provided, single submitter research
Baylor Genetics RCV001527428 SCV005052835 pathogenic Niemann-Pick disease, type A 2024-03-30 criteria provided, single submitter 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.