Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
RCV000034237 | SCV001441237 | pathogenic | Hereditary spastic paraplegia 11 | 2020-09-30 | criteria provided, single submitter | research | |
Genome Diagnostics Laboratory, |
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- |
RCV000034237 | SCV002763777 | pathogenic | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Institute Of Human Genetics Munich, |
RCV000034237 | SCV002764906 | pathogenic | Hereditary spastic paraplegia 11 | 2021-06-25 | criteria provided, single submitter | clinical testing | |
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 | |
Gene |
RCV000034237 | SCV000058176 | not provided | Hereditary spastic paraplegia 11 | no assertion provided | literature only |