ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2092C>T (p.Leu698=)

gnomAD frequency: 0.00001  dbSNP: rs766929334
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768316 SCV000898976 uncertain significance Shprintzen-Goldberg syndrome 2021-03-30 criteria provided, single submitter clinical testing SKI NM_003036 exon 7 p.Leu698Leu (c.2092C>T): This variant has not been reported in the literature but is present in 7/22414 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs766929334). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002422649 SCV002730259 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-12-16 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.
Invitae RCV000768316 SCV004552433 likely benign Shprintzen-Goldberg syndrome 2023-05-07 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.