Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725978 | SCV000340962 | pathogenic | not provided | 2017-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000370816 | SCV000645533 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2022-07-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 287254). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 16575836, 19948535, 26076142). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln147*) 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). |
Credence Genomics | RCV000370816 | SCV002050688 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2021-12-20 | no assertion criteria provided | clinical testing | This mutation caused stop gain in JAG1 gene and expected to result a pathogenic loss of function variant. This is previously reported by Warthen 2006 and Liting Li 2015 . |