Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000645296 | SCV000767039 | pathogenic | Legius syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 536688). This premature translational stop signal has been observed in individual(s) with Legius syndrome (PMID: 21089071). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr102Asnfs*7) 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). |
Center for Human Genetics, |
RCV000645296 | SCV000782324 | pathogenic | Legius syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813534 | SCV002060949 | pathogenic | Noonan syndrome and Noonan-related syndrome | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003318616 | SCV004022812 | pathogenic | not provided | 2023-07-27 | 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: 17704776, 21548021, 27322474, 22753041, 28747691, 21089071) |