Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000210558 | SCV000262977 | likely pathogenic | Inborn genetic diseases | 2024-01-03 | criteria provided, single submitter | clinical testing | The c.1901C>A (p.A634D) alteration is located in exon 14 (coding exon 13) of the JAK1 gene. This alteration results from a C to A substitution at nucleotide position 1901, causing the alanine (A) at amino acid position 634 to be replaced by an aspartic acid (D). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been determined to be the result of a de novo mutation one individual with features consistent with JAK1-related autoinflammation, immune dysregulation, and eosinophilia syndrome (Del Bel, 2017). This amino acid position is highly conserved in available vertebrate species. In an assay testing JAK1 function, this variant showed a functionally abnormal result (Springuel, 2014). This alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, this alteration is classified as likely pathogenic. |
| Database of Curated Mutations |
RCV000444628 | SCV000510412 | likely pathogenic | Lymphoblastic leukemia, acute, with lymphomatous features | 2016-05-13 | no assertion criteria provided | literature only | |
| OMIM | RCV001255134 | SCV001431237 | pathogenic | Autoinflammation, immune dysregulation, and eosinophilia | 2020-09-01 | no assertion criteria provided | literature only |