Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000252205 | SCV000320076 | likely benign | Cardiovascular phenotype | 2020-02-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| SIB Swiss Institute of Bioinformatics | RCV000539064 | SCV000883210 | likely pathogenic | Glucocorticoid deficiency 5 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Glucocorticoid deficiency 5, autosomal recessive. The following ACMG Tag(s) were applied: PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/24601690). PVS1-Moderate => Stop-gain mutation predicted to be loss of function. TXNRD2 is a selenoprotein and the selenocysteine residue is essential for enzymatic activity. The mutation is predicted to cause protein truncation prior the selenocysteine residue (http://www.uniprot.org/uniprot/Q9NNW7). PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/24601690). |
| Labcorp Genetics |
RCV000863069 | SCV001003664 | likely benign | Primary dilated cardiomyopathy | 2024-10-27 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV001575668 | SCV001802715 | uncertain significance | not provided | 2023-12-28 | 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 not a known mechanism of disease; This variant is associated with the following publications: (PMID: 26300845, 31712860, 34297361, 34426522, 38011841, EdavanaS2023[Abstract], 36674647, 24601690) |
| Genomic Medicine Center of Excellence, |
RCV000539064 | SCV005442128 | uncertain significance | Glucocorticoid deficiency 5 | 2024-12-19 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000539064 | SCV000660440 | pathogenic | Glucocorticoid deficiency 5 | 2017-12-22 | no assertion criteria provided | literature only |