ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys)

gnomAD frequency: 0.00073  dbSNP: rs868906137
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725142 SCV000334418 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000725142 SCV000577413 likely benign not provided 2020-03-27 criteria provided, single submitter clinical testing
Invitae RCV000534113 SCV000650276 uncertain significance 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 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1478 of the PLEC protein (p.Glu1478Lys). This variant is present in population databases (no rsID available, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This missense change has been observed in individual(s) with clinical features of limb-girdle muscular dystrophy (Invitae). ClinVar contains an entry for this variant (Variation ID: 282780). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen RCV000725142 SCV001248535 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing PLEC: BS2
MGZ Medical Genetics Center RCV002288959 SCV002580793 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2Q 2022-03-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725142 SCV003817343 uncertain significance not provided 2023-09-06 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.