ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly)

gnomAD frequency: 0.00003  dbSNP: rs368449236
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753530 SCV001986219 uncertain significance not provided 2020-05-29 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25344692)
Labcorp Genetics (formerly Invitae), Labcorp RCV001753530 SCV003444608 uncertain significance not provided 2023-06-30 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 162404). This missense change has been observed in individual(s) with clinical features of microcephaly and chorioretinopathy (PMID: 25344692). This variant is present in population databases (rs368449236, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 849 of the TUBGCP6 protein (p.Glu849Gly). 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.
OMIM RCV000149799 SCV000196608 pathogenic Microcephaly and chorioretinopathy 1 2014-12-01 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.