Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002251338 | SCV000250466 | pathogenic | not provided | 2022-05-10 | 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: 25525159, 29483232, 30074189, 34185059, 10220506) |
Labcorp Genetics |
RCV001384081 | SCV001583465 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2022-06-13 | 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: 213539). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 10220506, 30074189, 34185059). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg900*) in the JAG1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599). |
Yale Center for Mendelian Genomics, |
RCV000845198 | SCV000987134 | likely pathogenic | Atypical coarctation of aorta | 2018-02-26 | no assertion criteria provided | literature only |