Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469116 | SCV000545807 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2016-07-31 | criteria provided, single submitter | clinical testing | This sequence change inserts 1 nucleotide in exon 24 of the JAG1 mRNA (c.2966dupT), causing a frameshift at codon 989. This creates a premature translational stop signal (p.Leu989Phefs*7) and is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. 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). |
Eurofins Ntd Llc |
RCV000735018 | SCV000863205 | pathogenic | not provided | 2018-08-30 | criteria provided, single submitter | clinical testing |