ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu)

gnomAD frequency: 0.07595  dbSNP: rs58308209
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117981 SCV000269703 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asp3077Glu in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 21.4% (927/4330) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs58308209).
GeneDx RCV000117981 SCV000514154 benign not specified 2016-03-25 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.
Invitae RCV000559616 SCV000650455 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 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712764 SCV000843288 benign not provided 2018-06-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117981 SCV000152295 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712764 SCV001799780 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000117981 SCV001924623 benign not specified no assertion criteria provided clinical testing

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