ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys)

gnomAD frequency: 0.00002  dbSNP: rs377125427
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517992 SCV000614625 uncertain significance not specified 2017-04-14 criteria provided, single submitter clinical testing
GeneDx RCV001722437 SCV000730764 likely benign not provided 2019-05-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000876023 SCV001018528 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 2025-01-06 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001722437 SCV003811166 uncertain significance not provided 2021-09-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541613 SCV004768772 likely benign PLEC-related disorder 2021-11-23 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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