ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr)

gnomAD frequency: 0.00107  dbSNP: rs376665854
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502378 SCV000596449 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725600 SCV000701035 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Invitae RCV001085255 SCV001019519 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 2024-01-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725600 SCV001476772 likely benign not provided 2019-10-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725600 SCV003811142 likely benign not provided 2023-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003278854 SCV003962674 likely benign Inborn genetic diseases 2023-04-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003902788 SCV004719458 likely benign PLEC-related condition 2023-09-07 criteria provided, single submitter 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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