ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) (rs373905859)

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 RCV001051564 SCV001215725 uncertain significance Dyskeratosis congenita 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 840 of the CTC1 protein (p.Arg840Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs373905859, ExAC 0.01%). This variant has been observed in individual(s) with cerebroretinal microangiopathy with calcifications and cysts type 1 (PMID: 22267198). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 30999). This variant has been reported to affect some aspects of CTC1 protein function (PMID: 29228254, 29481669, 23869908, 24115768). The murine equivalent of this variant is p.Arg835Trp. 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 RCV000023990 SCV000045281 pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1 2012-01-22 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.