Submissions for variant NM_003119.4(SPG7):c.1653C>T (p.Arg551=)

gnomAD frequency: 0.00386  dbSNP: rs56031686

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000196125	SCV000252302	benign	not specified	2014-06-16	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.
Invitae	RCV001088894	SCV000259272	benign	Hereditary spastic paraplegia 7	2023-12-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000196125	SCV000309382	benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001088894	SCV000884571	benign	Hereditary spastic paraplegia 7	2022-09-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847884	SCV002105849	uncertain significance	Hereditary spastic paraplegia	2016-12-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221854	SCV003917864	benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SPG7: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000196125	SCV001739791	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000196125	SCV001957422	benign	not specified		no assertion criteria provided	clinical testing