ClinVar Miner

Submissions for variant NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)

gnomAD frequency: 0.00371  dbSNP: rs142178073
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) RCV000280282 SCV000338427 benign not specified 2016-01-21 criteria provided, single submitter clinical testing
Invitae RCV000972278 SCV001119977 benign Niemann-Pick disease, type B; Niemann-Pick disease, type A 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107112 SCV001264243 likely benign Niemann-Pick disease, type A 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV002285303 SCV002575573 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003957444 SCV004773429 benign SMPD1-related disorder 2023-01-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001107112 SCV002091655 likely benign Niemann-Pick disease, type A 2017-05-05 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.