ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2128G>A (p.Ala710Thr)

gnomAD frequency: 0.00001  dbSNP: rs1567604032
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698304 SCV000826963 uncertain significance Dyskeratosis congenita 2018-06-09 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. 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 threonine 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. This variant has not been reported in the literature in individuals with CTC1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 710 of the CTC1 protein (p.Ala710Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Godley laboratory, The University of Chicago RCV001172448 SCV001250900 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001172448 SCV002055598 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002533519 SCV003649237 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.2128G>A (p.A710T) alteration is located in exon 13 (coding exon 13) of the CTC1 gene. This alteration results from a G to A substitution at nucleotide position 2128, causing the alanine (A) at amino acid position 710 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.