ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro)

gnomAD frequency: 0.53335  dbSNP: rs7833924
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078898 SCV000110758 benign not specified 2013-04-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078898 SCV000269697 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser2791Pro in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 43.1% (3635/8436) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs7833924).
PreventionGenetics, part of Exact Sciences RCV000078898 SCV000304349 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078898 SCV000514149 benign not specified 2016-11-18 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 RCV001521011 SCV001730259 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
Genome-Nilou Lab RCV001789115 SCV002032044 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789112 SCV002032045 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789111 SCV002032046 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789113 SCV002032047 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789114 SCV002032049 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004712023 SCV005267432 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000078898 SCV000152288 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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