ClinVar Miner

Submissions for variant NM_000445.5(PLEC):c.5922_5923insTTGGAG (p.1970_1971EL[4]) (rs781862456)

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 RCV000555853 SCV000650343 uncertain significance Epidermolysa bullosa simplex and limb girdle muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex with pyloric atresia; Limb-girdle muscular dystrophy, type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2016-11-04 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 32 of the PLEC mRNA (c.5922_5923insTTGGAG). This leads to the insertion of 2 amino acid residue(s) in the PLEC protein (p.Glu1974_Leu1975dup) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781862456, ExAC 0.003%) but has not been reported in the literature in individuals with a PLEC-related disease. Prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this is a rare in-frame duplication with uncertain impact on protein function. 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.