Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000730936 | SCV000574117 | uncertain significance | not provided | 2017-04-03 | criteria provided, single submitter | clinical testing | The V1156A variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1156A variant is observed in 1/6614 (0.015%) alleles from individuals of Finnish background in the ExAC dataset (Lek et al., 2016). The V1156A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1156A as a variant of uncertain significance. |
Invitae | RCV000687251 | SCV000814808 | likely benign | Alagille syndrome due to a JAG1 point mutation | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000730936 | SCV000858703 | uncertain significance | not provided | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000765484 | SCV000896779 | uncertain significance | Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000730936 | SCV001962378 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing |