ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg)

gnomAD frequency: 0.00072  dbSNP: rs201667254
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174248 SCV000335011 likely benign not specified 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001721103 SCV000522684 likely benign not provided 2019-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000174248 SCV000596442 uncertain significance not specified 2016-12-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559452 SCV000650168 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 2024-01-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174248 SCV000711609 likely benign not specified 2016-12-14 criteria provided, single submitter clinical testing p.Ser523Arg in exon 11 of PLEC: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.4% (71/16504) of South Asian chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201667254).
CeGaT Center for Human Genetics Tuebingen RCV001721103 SCV002498000 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing PLEC: BS2
Ambry Genetics RCV002516622 SCV003723180 uncertain significance Inborn genetic diseases 2021-08-06 criteria provided, single submitter clinical testing The c.1239C>G (p.S413R) alteration is located in exon 12 (coding exon 11) of the PLEC gene. This alteration results from a C to G substitution at nucleotide position 1239, causing the serine (S) at amino acid position 413 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001721103 SCV005409546 uncertain significance not provided 2024-02-16 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV004537363 SCV004751151 likely benign PLEC-related disorder 2020-06-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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