ClinVar Miner

Submissions for variant NM_020461.4(TUBGCP6):c.4747G>A (p.Ala1583Thr)

gnomAD frequency: 0.00028  dbSNP: rs138207892
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
Invitae RCV001204118 SCV001375309 uncertain significance not provided 2023-08-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TUBGCP6-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 935509). This variant is present in population databases (rs138207892, gnomAD 0.07%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1583 of the TUBGCP6 protein (p.Ala1583Thr).
Ambry Genetics RCV002561145 SCV003752836 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.4747G>A (p.A1583T) alteration is located in exon 21 (coding exon 21) of the TUBGCP6 gene. This alteration results from a G to A substitution at nucleotide position 4747, causing the alanine (A) at amino acid position 1583 to be replaced by a threonine (T). 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.