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.
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 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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