Submissions for variant NM_201384.3(PLEC):c.12558G>A (p.Ser4186=)

gnomAD frequency: 0.00006  dbSNP: rs370789200

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217327	SCV000270742	likely benign	not specified	2015-09-03	criteria provided, single submitter	clinical testing	p.Ser4323Ser 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 6/66012 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs370789200).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000875973	SCV001018472	likely 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	2025-01-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541326	SCV004772869	likely benign	PLEC-related disorder	2024-02-15	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).