ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.791A>G (p.Asn264Ser)

gnomAD frequency: 0.00013  dbSNP: rs145541719
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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 RCV000504214 SCV000593234 uncertain significance not specified 2016-12-18 criteria provided, single submitter clinical testing
Invitae RCV000863105 SCV001003706 likely benign Spastic paraplegia 2023-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942622 SCV004765937 likely benign AP4E1-related condition 2019-12-18 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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