ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1454G>T (p.Arg485Leu)

dbSNP: rs200328762
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518500 SCV000614608 uncertain significance not specified 2017-06-19 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727840 SCV000855281 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001296228 SCV001485186 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 2023-11-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 512 of the PLEC protein (p.Arg512Leu). This variant is present in population databases (rs200328762, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. ClinVar contains an entry for this variant (Variation ID: 448053). 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.
Ambry Genetics RCV002527510 SCV003699192 uncertain significance Inborn genetic diseases 2022-05-06 criteria provided, single submitter clinical testing The c.1535G>T (p.R512L) alteration is located in exon 15 (coding exon 14) of the PLEC gene. This alteration results from a G to T substitution at nucleotide position 1535, causing the arginine (R) at amino acid position 512 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV000727840 SCV003817223 uncertain significance not provided 2022-11-14 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.