Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461222 | SCV000545809 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2016-12-13 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, loss-of-function variants in JAG1 are known to be pathogenic (PMID: 11180599, 12497640). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 23 of the JAG1 mRNA (c.2840delA), causing a frameshift at codon 947. This creates a premature translational stop signal (p.Lys947Serfs*23) and is expected to result in an absent or disrupted protein product. |