ClinVar Miner

Submissions for variant NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr)

gnomAD frequency: 0.00319  dbSNP: rs749130556
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 RCV000194110 SCV000248875 uncertain significance not specified 2014-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315500 SCV000847469 benign Inborn genetic diseases 2019-02-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV001668363 SCV001884162 benign not provided 2018-11-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17173049, 17999366, 18615476)
CeGaT Center for Human Genetics Tuebingen RCV001668363 SCV002563742 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing SHANK3: BS1

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.