Submissions for variant NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)

gnomAD frequency: 0.01678  dbSNP: rs77697105

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000206555	SCV000261205	benign	Hereditary spastic paraplegia 11	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000429113	SCV000521459	benign	not specified	2016-04-22	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.
Athena Diagnostics Inc	RCV000429113	SCV000615404	benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000206555	SCV000743950	benign	Hereditary spastic paraplegia 11	2014-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000206555	SCV001279527	likely benign	Hereditary spastic paraplegia 11	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000429113	SCV002051014	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847935	SCV002105655	benign	Hereditary spastic paraplegia	2021-08-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467669	SCV002764171	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467670	SCV002764172	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000206555	SCV002764174	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573378	SCV004033375	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SPG11: BP4, BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000206555	SCV000745915	likely benign	Hereditary spastic paraplegia 11	2016-07-15	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573378	SCV001799172	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000429113	SCV001809386	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000429113	SCV001919709	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000429113	SCV001956501	benign	not specified		no assertion criteria provided	clinical testing