Submissions for variant NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)

gnomAD frequency: 0.03013  dbSNP: rs34751342

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145020	SCV000519890	benign	not specified	2016-04-25	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.
Invitae	RCV000462246	SCV000559477	benign	Hereditary spastic paraplegia 47	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312629	SCV000847006	benign	Inborn genetic diseases	2016-03-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847776	SCV002105543	benign	Hereditary spastic paraplegia	2021-11-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000462246	SCV004050689	benign	Hereditary spastic paraplegia 47	2023-04-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145020	SCV000192057	likely benign	not specified		no assertion criteria provided	clinical testing