ClinVar Miner

Submissions for variant NM_001318510.2(ACSL4):c.90A>G (p.Ile30Met)

gnomAD frequency: 0.00001  dbSNP: rs750659716
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001822816 SCV002072042 uncertain significance not specified 2017-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370342 SCV002684718 likely benign Inborn genetic diseases 2022-01-31 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.
Revvity Omics, Revvity RCV003136179 SCV003822517 uncertain significance Intellectual disability, X-linked 63 2021-09-21 criteria provided, single submitter clinical testing
Dr.Nikuei Genetic Center RCV003136179 SCV005200280 benign Intellectual disability, X-linked 63 2024-06-27 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.