ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)

gnomAD frequency: 0.00001  dbSNP: rs312262775
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001009034 SCV001168844 pathogenic not provided 2023-01-19 criteria provided, single submitter clinical testing Frameshift 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: 32397312, 32709422, 18079167, 33600046, Rudenskaya2020[CaseReport])
Institute of Human Genetics, Cologne University RCV000034237 SCV001441237 pathogenic Hereditary spastic paraplegia 11 2020-09-30 criteria provided, single submitter research
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847635 SCV002105741 pathogenic Hereditary spastic paraplegia 2021-11-02 criteria provided, single submitter clinical testing
Invitae RCV000034237 SCV002142058 pathogenic Hereditary spastic paraplegia 11 2023-09-30 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 18079167). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 41336). This variant is present in population databases (rs312262775, gnomAD 0.03%). This sequence change creates a premature translational stop signal (p.Cys1996Leufs*4) 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).
Genome-Nilou Lab RCV000034237 SCV002763777 pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000034237 SCV002764906 pathogenic Hereditary spastic paraplegia 11 2021-06-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490454 SCV002788520 pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2021-07-30 criteria provided, single submitter clinical testing
GeneReviews RCV000034237 SCV000058176 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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