ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9423C>T (p.Gly3141=)

gnomAD frequency: 0.00421  dbSNP: rs61529674
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117982 SCV000332440 benign not specified 2015-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000117982 SCV000519885 benign not specified 2016-10-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000542589 SCV000650471 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117982 SCV000711696 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly3278Gly in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 12.4% (22/178) of Japanese chromosomes from a broad population by the 1000 Genomes Project (http: //www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs61529674).
Athena Diagnostics RCV000117982 SCV001475970 benign not specified 2024-08-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712072 SCV005267424 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117982 SCV000152298 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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