ClinVar Miner

Submissions for variant NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln)

gnomAD frequency: 0.00001  dbSNP: rs1401066315
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201802 SCV001372893 uncertain significance Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 206 of the DCLRE1B protein (p.Arg206Gln). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DCLRE1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 933562). 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 glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.