ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.3632G>A (p.Arg1211Gln)

gnomAD frequency: 0.00001  dbSNP: rs370735400
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 RCV001944770 SCV002133017 uncertain significance not provided 2021-05-08 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. This sequence change replaces arginine with glutamine at codon 1211 of the TUBGCP6 protein (p.Arg1211Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs370735400, ExAC 0.003%). This variant has not been reported in the literature in individuals with TUBGCP6-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies.
Ambry Genetics RCV002550989 SCV003555655 uncertain significance Inborn genetic diseases 2021-01-08 criteria provided, single submitter clinical testing The c.3632G>A (p.R1211Q) alteration is located in exon 16 (coding exon 16) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 3632, causing the arginine (R) at amino acid position 1211 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.