ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1046C>T (p.Ser349Leu)

dbSNP: rs2142967912
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 RCV001934346 SCV002211627 uncertain significance Dyskeratosis congenita, autosomal dominant 6 2021-07-17 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 leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ACD-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with leucine at codon 435 of the ACD protein (p.Ser435Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.

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.