Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001376921 | SCV001574120 | likely pathogenic | Alagille syndrome due to a JAG1 point mutation | 2020-08-20 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect JAG1 protein function (PMID: 31343788). This variant has been observed in individual(s) with Alagille syndrome (PMID: 16575836, 31343788). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with tyrosine at codon 911 of the JAG1 protein (p.Cys911Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. |