Submissions for variant NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)

gnomAD frequency: 0.01464  dbSNP: rs58909326

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116356	SCV000723575	benign	not specified	2017-10-02	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	RCV000633116	SCV000754328	benign	Spastic paraplegia	2024-01-25	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847659	SCV002104950	likely benign	Hereditary spastic paraplegia	2018-11-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259606	SCV002539353	benign	Hereditary spastic paraplegia 51	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259607	SCV002539354	benign	Stuttering, familial persistent, 1	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004703378	SCV005212714	likely benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116356	SCV000150280	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.