ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.4075del (p.Ile1359fs)

gnomAD frequency: 0.00001  dbSNP: rs1405032433
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000809269 SCV000949415 pathogenic Hereditary spastic paraplegia 11 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1359Tyrfs*30) 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 (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SPG11-related conditions. ClinVar contains an entry for this variant (Variation ID: 653485). For these reasons, this variant has been classified as Pathogenic.
AiLife Diagnostics, AiLife Diagnostics RCV002223247 SCV002501457 likely pathogenic not provided 2021-06-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000809269 SCV002763934 likely pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing

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