Submissions for variant NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)

gnomAD frequency: 0.01184  dbSNP: rs76116949

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000231950	SCV000290933	benign	Hereditary spastic paraplegia 11	2025-02-03	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514388	SCV000610961	benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000602319	SCV000730586	benign	not specified	2017-07-06	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000231950	SCV000743941	likely benign	Hereditary spastic paraplegia 11	2016-01-18	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000514388	SCV000844029	benign	not provided	2018-08-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000231950	SCV001139566	likely benign	Hereditary spastic paraplegia 11	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000231950	SCV001275269	likely benign	Hereditary spastic paraplegia 11	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
UM ALS/MND Lab, University Of Malta	RCV001260218	SCV001437187	uncertain significance	Amyotrophic lateral sclerosis	2020-09-09	criteria provided, single submitter	case-control
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000602319	SCV002104002	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848014	SCV002105780	likely benign	Hereditary spastic paraplegia	2020-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514388	SCV004136514	benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	SPG11: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000231950	SCV000745901	likely benign	Hereditary spastic paraplegia 11	2016-12-02	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000602319	SCV001920540	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000602319	SCV001960077	benign	not specified		no assertion criteria provided	clinical testing