Submissions for variant NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)

gnomAD frequency: 0.00066  dbSNP: rs138437966

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195099	SCV000246444	uncertain significance	not specified	2014-05-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000766902	SCV000532065	uncertain significance	not provided	2023-07-17	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001087871	SCV000553695	likely benign	Hereditary spastic paraplegia 50	2023-10-15	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001087871	SCV001527127	uncertain significance	Hereditary spastic paraplegia 50	2018-07-24	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic	RCV000766902	SCV001713407	uncertain significance	not provided	2020-11-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000766902	SCV004162620	uncertain significance	not provided	2023-02-01	criteria provided, single submitter	clinical testing	AP4M1: PM2
PreventionGenetics, part of Exact Sciences	RCV003927759	SCV004739522	likely benign	AP4M1-related condition	2023-07-27	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).