ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)

gnomAD frequency: 0.00001  dbSNP: rs748936934
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
Invitae RCV001362695 SCV001558725 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 238 of the SMPD1 protein (p.Ala238Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs748936934, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SMPD1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001836361 SCV002091691 uncertain significance Niemann-Pick disease, type A 2020-02-26 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.