Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000197265 | SCV000250485 | pathogenic | not provided | 2014-07-09 | criteria provided, single submitter | clinical testing | The c.1205dupC mutation in the JAG1 gene has been reported previously in association with Alagille syndrome using different nomenclature (Krantz, et al., 1998) . The duplication causes a frameshift starting with codon Glycine 403, changes this amino acid to a Threonine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.Gln403ThrfsX13. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay This variant was found in JAG1 |
Invitae | RCV000008061 | SCV000934811 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 2022-03-10 | 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: 213558). This premature translational stop signal has been observed in individual(s) with Alagille syndrome (PMID: 9585603). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln403Thrfs*13) 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). |
OMIM | RCV000008061 | SCV000028266 | pathogenic | Alagille syndrome due to a JAG1 point mutation | 1998-06-01 | no assertion criteria provided | literature only |