ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.3351C>T (p.Ser1117=)

gnomAD frequency: 0.00029  dbSNP: rs371690344
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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 RCV000865238 SCV001006173 likely benign Spastic paraplegia 2024-01-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847057 SCV002105183 uncertain significance Hereditary spastic paraplegia 2018-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975401 SCV004791319 likely benign AP4E1-related disorder 2019-04-24 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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