ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.13248G>A (p.Thr4416=)

gnomAD frequency: 0.00455  dbSNP: rs115621402
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Total submissions: 5
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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 RCV000221986 SCV000269661 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr4553Thr in exon 32 of PLEC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1.4% (56/3946) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs115621402).
GeneDx RCV000221986 SCV000522202 benign not specified 2016-08-31 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 RCV001085183 SCV000677087 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 RCV000712723 SCV000843245 benign not provided 2018-03-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712723 SCV005267398 benign not provided criteria provided, single submitter not provided

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