ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3965A>G (p.His1322Arg)

gnomAD frequency: 0.53310  dbSNP: rs55895668
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Total submissions: 10
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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 RCV000117968 SCV000269676 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.His1459Arg in exon 30 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 42.9% (3666/8538) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs55895668).
PreventionGenetics, part of Exact Sciences RCV000117968 SCV000304332 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001521021 SCV001730269 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 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001682821 SCV001900302 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27346686)
Genome-Nilou Lab RCV001789164 SCV002031355 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789161 SCV002031356 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789160 SCV002031357 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789162 SCV002031358 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789163 SCV002031359 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117968 SCV000152259 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.

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