ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)

gnomAD frequency: 0.00931  dbSNP: rs138924815
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117984 SCV000152300 benign not specified 2013-08-22 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000117984 SCV000224831 benign not specified 2014-10-27 criteria provided, single submitter clinical testing
GeneDx RCV000117984 SCV000514132 benign not specified 2016-10-07 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 RCV000545319 SCV000650477 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 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000988123 SCV001137716 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001258316 SCV001435281 benign Epidermolysis bullosa simplex, Ogna type criteria provided, single submitter research The heterozygous p.Arg323Gln variant in PLEC has been identified in the compound heterozygous state in 2 siblings from 1 family with muscular dystrophy with epidermolysis bullosa (PMID: 20016501). This variant has also been identified in >1% of European (non-Finnish) chromosomes and 19 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal recessive muscular dystrophy with epidermolysis bullosa.
Athena Diagnostics RCV000117984 SCV001475973 benign not specified 2024-05-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002512059 SCV002821916 benign not provided 2024-11-01 criteria provided, single submitter clinical testing PLEC: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002512059 SCV005269685 benign not provided criteria provided, single submitter not provided

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