Submissions for variant NM_003119.4(SPG7):c.1053del (p.Gly352fs)

dbSNP: rs760818649

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001905081	SCV002129578	pathogenic	Hereditary spastic paraplegia 7	2023-06-09	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gly352Alafs*87) in the SPG7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG7 are known to be pathogenic (PMID: 21623769, 22964162). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SPG7-related conditions. ClinVar contains an entry for this variant (Variation ID: 1363777). For these reasons, this variant has been classified as Pathogenic.
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research	RCV001905081	SCV005044556	pathogenic	Hereditary spastic paraplegia 7	2022-01-01	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV001905081	SCV005642508	likely pathogenic	Hereditary spastic paraplegia 7	2024-03-18	criteria provided, single submitter	clinical testing