Submissions for variant NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)

gnomAD frequency: 0.00130  dbSNP: rs143286419

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202700	SCV000258046	likely benign	not specified	2015-05-11	criteria provided, single submitter	clinical testing
Invitae	RCV000233517	SCV000289577	likely benign	Hereditary spastic paraplegia 47	2023-12-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000202700	SCV000593228	likely benign	not specified	2017-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000202700	SCV000714000	likely benign	not specified	2018-02-05	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	RCV002315631	SCV000847566	likely benign	Inborn genetic diseases	2018-12-17	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV001847911	SCV002104895	likely benign	Hereditary spastic paraplegia	2021-06-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002057045	SCV002496904	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	AP4B1: BS2
Genome-Nilou Lab	RCV000233517	SCV004050678	likely benign	Hereditary spastic paraplegia 47	2023-04-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917829	SCV004728621	likely benign	AP4B1-related condition	2021-02-11	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).