ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.171G>A (p.Gln57=)

gnomAD frequency: 0.00543  dbSNP: rs28463775
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861313 SCV001001587 benign Spastic paraplegia 2024-12-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849140 SCV002105050 likely benign Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260069 SCV002539342 benign Hereditary spastic paraplegia 51 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260070 SCV002539343 benign Stuttering, familial persistent, 1 2021-12-05 criteria provided, single submitter clinical testing
GeneDx RCV002260673 SCV002540463 likely benign not provided 2021-12-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV003908155 SCV004721249 benign AP4E1-related disorder 2020-10-21 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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