ClinVar Miner

Submissions for variant NM_000301.5(PLG):c.782G>A (p.Arg261His)

gnomAD frequency: 0.00273  dbSNP: rs4252187
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000886591 SCV001030106 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000886591 SCV001713396 uncertain significance not provided 2021-12-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000886591 SCV004156381 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing PLG: BP4
Santos-Cortez Lab, University of Colorado School of Medicine RCV000999695 SCV000996504 uncertain significance Otitis media, susceptibility to 2019-07-26 no assertion criteria provided research
PreventionGenetics, part of Exact Sciences RCV003908140 SCV004719322 likely benign PLG-related disorder 2020-08-04 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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