ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg)

gnomAD frequency: 0.00014  dbSNP: rs144465428
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730126 SCV000857841 uncertain significance not provided 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000730126 SCV001820931 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002485872 SCV002781102 uncertain significance Niemann-Pick disease, type B; Niemann-Pick disease, type A 2022-03-22 criteria provided, single submitter clinical testing
Invitae RCV002485872 SCV003265801 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535142 SCV003676603 likely benign Inborn genetic diseases 2021-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003892624 SCV004712321 likely benign SMPD1-related disorder 2022-01-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.