ClinVar Miner

Submissions for variant NM_006662.3(SRCAP):c.5850_5851insATT (p.Thr1950_Tyr1951insIle)

dbSNP: rs767382265
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894539 SCV002127782 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is present in population databases (rs767382265, gnomAD 0.002%). This variant, c.5850_5851insATT, results in the insertion of 1 amino acid(s) of the SRCAP protein (p.Thr1950_Tyr1951insIle), but otherwise preserves the integrity of the reading frame.
Fulgent Genetics, Fulgent Genetics RCV002490037 SCV002779165 uncertain significance Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 2021-07-16 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.