ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.42A>G (p.Gly14=)

gnomAD frequency: 0.00005  dbSNP: rs143027953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500660 SCV000593232 likely benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003105929 SCV003783682 likely benign Spastic paraplegia 2022-03-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942621 SCV004765224 likely benign AP4E1-related disorder 2019-11-06 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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