ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.764T>C (p.Val255Ala)

gnomAD frequency: 0.00003  dbSNP: rs773893939
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
CeGaT Center for Human Genetics Tuebingen RCV000998850 SCV001155156 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549109 SCV003517885 uncertain significance Myoclonic dystonia 11 2022-09-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 810136). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SGCE-related conditions. This variant is present in population databases (rs773893939, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 255 of the SGCE protein (p.Val255Ala).

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.