Submissions for variant NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)

gnomAD frequency: 0.00175  dbSNP: rs141818132

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224214	SCV000280882	uncertain significance	not provided	2016-04-25	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
Invitae	RCV001085256	SCV000642278	likely benign	Hereditary spastic paraplegia 11	2024-01-28	criteria provided, single submitter	clinical testing
UM ALS/MND Lab, University Of Malta	RCV001260212	SCV001437181	uncertain significance	Amyotrophic lateral sclerosis	2020-09-09	criteria provided, single submitter	case-control
GeneDx	RCV000224214	SCV001739169	likely benign	not provided	2019-01-29	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847948	SCV002105763	uncertain significance	Hereditary spastic paraplegia	2017-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365166	SCV002663630	likely benign	Inborn genetic diseases	2019-11-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV000224214	SCV004184450	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SPG11: BP4
PreventionGenetics, part of Exact Sciences	RCV003919902	SCV004731987	likely benign	SPG11-related condition	2020-02-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000224214	SCV001809256	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000224214	SCV001920523	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000224214	SCV001971176	likely benign	not provided		no assertion criteria provided	clinical testing