Submissions for variant NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)

gnomAD frequency: 0.01302  dbSNP: rs78183930

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000204648	SCV000261206	benign	Hereditary spastic paraplegia 11	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000518661	SCV000615407	benign	not specified	2017-07-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000204648	SCV000743948	benign	Hereditary spastic paraplegia 11	2014-12-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000204648	SCV001275597	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001706197	SCV001909613	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25174650, 27957547)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000518661	SCV002051012	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847936	SCV002105677	benign	Hereditary spastic paraplegia	2021-02-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001706197	SCV002497775	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	SPG11: BS1, BS2
Genome-Nilou Lab	RCV002467671	SCV002764080	likely benign	Amyotrophic lateral sclerosis type 5		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002467672	SCV002764081	likely benign	Charcot-Marie-Tooth disease axonal type 2X		criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000204648	SCV002764082	likely benign	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000204648	SCV000733445	benign	Hereditary spastic paraplegia 11		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000204648	SCV000745912	likely benign	Hereditary spastic paraplegia 11	2016-07-15	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000518661	SCV001808367	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000518661	SCV001918146	benign	not specified		no assertion criteria provided	clinical testing