ClinVar Miner

Submissions for variant NM_012431.3(SEMA3E):c.869C>T (p.Ala290Val)

gnomAD frequency: 0.00001  dbSNP: rs749567149
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
Invitae RCV001228915 SCV001401343 uncertain significance CHARGE association 2023-03-24 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SEMA3E protein function. ClinVar contains an entry for this variant (Variation ID: 956162). This variant has not been reported in the literature in individuals affected with SEMA3E-related conditions. This variant is present in population databases (rs749567149, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 290 of the SEMA3E protein (p.Ala290Val).
Revvity Omics, Revvity RCV003490141 SCV004237210 uncertain significance not provided 2021-05-21 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.