Submissions for variant NM_025137.4(SPG11):c.5608T>C (p.Leu1870=)

gnomAD frequency: 0.00010  dbSNP: rs4254299

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000557993	SCV000642253	benign	Hereditary spastic paraplegia 11	2025-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002350282	SCV002648359	likely benign	Inborn genetic diseases	2019-07-11	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Athena Diagnostics	RCV005000172	SCV005620921	benign	not specified	2024-02-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003979989	SCV004789589	likely benign	SPG11-related disorder	2024-01-05	no assertion criteria provided	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).