ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter)

dbSNP: rs786204176
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168213 SCV000218879 pathogenic Hereditary spastic paraplegia 11 2023-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys959*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SPG11-related conditions (PMID: 3283541, 32383541). 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: 188250). For these reasons, this variant has been classified as Pathogenic.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000171235 SCV000221432 likely pathogenic not provided criteria provided, single submitter research
GeneDx RCV000171235 SCV004167998 pathogenic not provided 2023-04-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27124789, 32383541)

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