Submissions for variant NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)

gnomAD frequency: 0.43394  dbSNP: rs2306331

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116365	SCV000519181	benign	not specified	2016-01-22	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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000600841	SCV000745415	benign	Hereditary spastic paraplegia 51	2017-05-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000600841	SCV001139627	benign	Hereditary spastic paraplegia 51	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001520602	SCV001729735	benign	Spastic paraplegia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000600841	SCV001775258	benign	Hereditary spastic paraplegia 51	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004715669	SCV005295779	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000116365	SCV000150289	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000600841	SCV000733463	benign	Hereditary spastic paraplegia 51		no assertion criteria provided	clinical testing