Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034260 | SCV000290932 | pathogenic | Hereditary spastic paraplegia 11 | 2023-12-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His235Argfs*12) 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 (rs312262719, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with hereditary spastic paraplegia and Charcot-Marie-Tooth disease (PMID: 18079167, 22696581, 26556829). ClinVar contains an entry for this variant (Variation ID: 41359). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV000599551 | SCV000709972 | pathogenic | not provided | 2020-05-13 | 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 a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 18079167, 29946510, 22154821, 19224311, 31589614) |
Paris Brain Institute, |
RCV000034260 | SCV001451239 | pathogenic | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000034260 | SCV002762878 | pathogenic | Hereditary spastic paraplegia 11 | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics Munich, |
RCV000034260 | SCV004045859 | pathogenic | Hereditary spastic paraplegia 11 | 2023-07-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034260 | SCV000058200 | not provided | Hereditary spastic paraplegia 11 | no assertion provided | literature only |