ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.563G>A (p.Gly188Asp)

gnomAD frequency: 0.00001  dbSNP: rs774249904
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002010460 SCV002297239 uncertain significance Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2021-04-02 criteria provided, single submitter clinical testing This variant is present in population databases (rs774249904, ExAC 0.009%). 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SUCLA2-related conditions. This sequence change replaces glycine with aspartic acid at codon 188 of the SUCLA2 protein (p.Gly188Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid.

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.