ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research RCV004818540 SCV005061996 likely pathogenic Hereditary spastic paraplegia 7 2022-01-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV004818540 SCV005642499 likely pathogenic Hereditary spastic paraplegia 7 2024-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV004818540 SCV005817403 pathogenic Hereditary spastic paraplegia 7 2024-11-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu112Aspfs*42) 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). This variant is present in population databases (rs752830674, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. For these reasons, this variant has been classified as Pathogenic.

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