Submissions for variant NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)

dbSNP: rs730882249

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	RCV000191923	SCV001438898	pathogenic	Hereditary spastic paraplegia 50		criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000191923	SCV001443059	pathogenic	Hereditary spastic paraplegia 50	2020-03-01	criteria provided, single submitter	clinical testing	Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3,(PP1)
PreventionGenetics, part of Exact Sciences	RCV003390861	SCV004111189	pathogenic	AP4M1-related condition	2022-12-20	criteria provided, single submitter	clinical testing	The AP4M1 c.952C>T variant is predicted to result in premature protein termination (p.Arg318*). This variant was reported in individuals with autosomal recessive spastic tetraplegia (Tüysüz et al. 2014. PubMed ID: 24700674; Table S1, Monies et al. 2019. PubMed ID: 31130284; Table S2, Dong et al. 2020. PubMed ID: 32005694). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-99703604-C-T). Nonsense variants in AP4M1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000191923	SCV004804977	pathogenic	Hereditary spastic paraplegia 50	2024-03-17	criteria provided, single submitter	research
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre	RCV000162190	SCV000196476	likely pathogenic	Global developmental delay; Hypoplasia of the corpus callosum; Microcephaly; CNS hypomyelination; Brain atrophy	2014-12-01	no assertion criteria provided	research
OMIM	RCV000191923	SCV000246146	pathogenic	Hereditary spastic paraplegia 50	2014-07-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529845	SCV001744025	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001529845	SCV001958789	pathogenic	not provided		no assertion criteria provided	clinical testing
Yale Center for Mendelian Genomics, Yale University	RCV001849324	SCV002106861	likely pathogenic	Spastic paraplegia	2020-10-01	no assertion criteria provided	literature only