Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000578923 | SCV000680728 | pathogenic | not provided | 2022-05-20 | 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 a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27064331, 23494849, 22578326, 27180139, 34313030) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV000029165 | SCV002061619 | likely pathogenic | Chudley-McCullough syndrome | 2021-10-06 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Invitae | RCV000578923 | SCV002122429 | pathogenic | not provided | 2022-01-31 | 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: 35493). This premature translational stop signal has been observed in individuals with Chudley-McCullough syndrome (PMID: 22578326). This variant is present in population databases (rs145191476, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Ser554*) in the GPSM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPSM2 are known to be pathogenic (PMID: 22578326, 22987632). |
OMIM | RCV000029165 | SCV000051810 | pathogenic | Chudley-McCullough syndrome | 2012-06-08 | no assertion criteria provided | literature only | |
Genome |
RCV000029165 | SCV001749620 | not provided | Chudley-McCullough syndrome | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 06-26-2017 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |