ClinVar Miner

Submissions for variant NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)

gnomAD frequency: 0.00011  dbSNP: rs187436884
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604495 SCV000717337 likely benign not specified 2017-03-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000862297 SCV001002782 benign Spastic paraplegia 2025-01-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260021 SCV002539373 benign Hereditary spastic paraplegia 51 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260022 SCV002539375 benign Stuttering, familial persistent, 1 2021-12-05 criteria provided, single submitter clinical testing

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