Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000001886 | SCV000782323 | pathogenic | Legius syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000001886 | SCV000833323 | pathogenic | Legius syndrome | 2023-08-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Legius syndrome (PMID: 19366998). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1813). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Arg64*) in the SPRED1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). |
Gene |
RCV003320544 | SCV004025244 | pathogenic | not provided | 2023-08-08 | 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: 17704776, 21089071, 19366998, 27322474, 32005694) |
OMIM | RCV000001886 | SCV000022042 | pathogenic | Legius syndrome | 2009-07-01 | no assertion criteria provided | literature only |