ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4786C>T (p.Leu1596=)

gnomAD frequency: 0.00008  dbSNP: rs782244301
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
GeneDx RCV000486500 SCV000573862 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing The c.4867 C>T nucleotide change results in a synonymous amino acid substitution at a position that is conserved through mammals. Multiple in-silico splice prediction models predict this variant would not alter gene splicing; however, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. No data are available from control populations to assess the frequency of this variant (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
Invitae RCV001392204 SCV001593843 likely benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2020-02-15 criteria provided, single submitter clinical testing

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.