ClinVar Miner

Submissions for variant NM_006364.4(SEC23A):c.2104A>G (p.Met702Val)

gnomAD frequency: 0.00034  dbSNP: rs138568622
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 RCV000032719 SCV003250402 uncertain significance Craniolenticulosutural dysplasia 2023-07-26 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 have shown that this missense change affects SEC23A function (PMID: 22298774). 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 not expected to disrupt SEC23A protein function. ClinVar contains an entry for this variant (Variation ID: 39521). This missense change has been observed in individual(s) with Craniolenticulosutural dysplasia (PMID: 21039434). This variant is present in population databases (rs138568622, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 702 of the SEC23A protein (p.Met702Val).
OMIM RCV000032719 SCV000056483 pathogenic Craniolenticulosutural dysplasia 2011-08-01 no assertion criteria provided literature only

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.