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

gnomAD frequency: 0.03013  dbSNP: rs34751342

Total submissions: 7

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.
Labcorp Genetics (formerly Invitae), Labcorp	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: seen in unaffected individuals, 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
Breakthrough Genomics, Breakthrough Genomics	RCV004713367	SCV005280424	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000145020	SCV000192057	likely benign	not specified		no assertion criteria provided	clinical testing