ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.545dup (p.Ala184fs)

gnomAD frequency: 0.00002  dbSNP: rs1567641214
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001931284 SCV002200979 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2022-10-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1426430). This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Ala270Glyfs*7) in the ACD gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ACD cause disease. 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.

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.