Submissions for variant NM_025137.4(SPG11):c.6451del (p.Ala2151fs)

dbSNP: rs312262779

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000034245	SCV000823620	pathogenic	Hereditary spastic paraplegia 11	2023-02-04	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs312262779, gnomAD 0.0009%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 41344). This premature translational stop signal has been observed in individual(s) with autosomal recessive hereditary spastic paraplegia (PMID: 17322883). It has also been observed to segregate with disease in related individuals. This sequence change creates a premature translational stop signal (p.Ala2151Profs*22) 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).
Eurofins Ntd Llc (ga)	RCV000732046	SCV000859922	pathogenic	not provided	2018-02-21	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000034245	SCV002763708	pathogenic	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
GeneReviews	RCV000034245	SCV000058185	not provided	Hereditary spastic paraplegia 11		no assertion provided	literature only