ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr)

dbSNP: rs775912475
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
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV001201095 SCV001372119 pathogenic DICER1-related tumor predisposition 2019-07-01 criteria provided, single submitter curation ACMG criteria met: PS2, PS3, PM1, PM2, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001201095 SCV003010466 uncertain significance DICER1-related tumor predisposition 2022-04-15 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1810 of the DICER1 protein (p.Asp1810Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed as a mosaic variant in an individual with pleuropulmonary blastoma, a Sertoli-Leydig cell tumor, and cystic nephroma (PMID: 26925222). ClinVar contains an entry for this variant (Variation ID: 933084). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Studies have shown that this missense change is associated with altered splicing resulting in unknown protein product impact (PMID: 26545620). 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.