ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.192A>T (p.Leu64Phe) (rs1231822339)

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
Invitae RCV000531832 SCV000658159 uncertain significance DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2018-10-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 64 of the DICER1 protein (p.Leu64Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to co-occur with a homozygous pathogenic PMS2 variant in an individual presenting with phenotypes consistent with constitutional mismatch repair deficiency syndrome (CMMR-D) with corpus callosum agenesis (PMID: 28562508). ClinVar contains an entry for this variant (Variation ID: 477075). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.