ClinVar Miner

Submissions for variant NM_001171613.2(PREPL):c.1455G>A (p.Glu485=)

gnomAD frequency: 0.00006  dbSNP: rs376716463
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002101468 SCV002396408 likely benign Myasthenic syndrome, congenital, 22 2023-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003418377 SCV004146020 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing PREPL: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003933409 SCV004750301 likely benign PREPL-related disorder 2019-06-26 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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