Submissions for variant NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)

gnomAD frequency: 0.42071  dbSNP: rs1217401

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000145016	SCV000519179	benign	not specified	2016-02-01	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.
Ambry Genetics	RCV002312627	SCV000846032	benign	Inborn genetic diseases	2016-03-13	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.
Mendelics	RCV000986397	SCV001135393	benign	Hereditary spastic paraplegia 47	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000986397	SCV001720528	benign	Hereditary spastic paraplegia 47	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000986397	SCV001775255	benign	Hereditary spastic paraplegia 47	2021-07-14	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847774	SCV002105432	benign	Hereditary spastic paraplegia	2022-01-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000145016	SCV000192053	likely benign	not specified		no assertion criteria provided	clinical testing