Submissions for variant NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)

dbSNP: rs1462607878

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000713419	SCV000844023	pathogenic	not provided	2017-09-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001849077	SCV002105729	pathogenic	Hereditary spastic paraplegia	2021-05-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001861990	SCV002237233	pathogenic	Hereditary spastic paraplegia 11	2022-11-15	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 586642). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 23733235). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu1698*) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829).
Genome-Nilou Lab	RCV001861990	SCV002763861	pathogenic	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing