Submissions for variant NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)

dbSNP: rs312262781

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000416215	SCV000493220	likely pathogenic	not provided	2016-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV000034248	SCV001386721	pathogenic	Hereditary spastic paraplegia 11	2023-12-27	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Ile2246Serfs*15) 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). This variant is present in population databases (rs312262781, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 18079167). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 41347). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics	RCV000416215	SCV002502658	pathogenic	not provided	2022-03-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000034248	SCV002763675	likely pathogenic	Hereditary spastic paraplegia 11		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496511	SCV002808795	pathogenic	Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X	2021-07-09	criteria provided, single submitter	clinical testing
GeneReviews	RCV000034248	SCV000058188	not provided	Hereditary spastic paraplegia 11		no assertion provided	literature only