ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala)

gnomAD frequency: 0.01065  dbSNP: rs35261863
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117942 SCV000269647 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly3490Ala in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 1.7% (139/8390) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs35261863).
GeneDx RCV000117942 SCV000522550 benign not specified 2016-03-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000576151 SCV000677070 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 2025-02-02 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992632 SCV001145048 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000992632 SCV005267418 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117942 SCV000152219 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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.