Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| 3billion | RCV000432136 | SCV002318661 | likely pathogenic | Chronic myelogenous leukemia, BCR-ABL1 positive | 2022-03-22 | criteria provided, single submitter | clinical testing | Same or different nucleotide change resulting in same amino acid change has been previously reported to be associated with ABL1 related disorder (ClinVar ID: VCV000012624). Different pathogenic/likely pathogenic amino acid change has been reported with supporting evidence at the same codon (ClinVar ID: VCV000376118). The variant is located in a mutational hot spot and/or well-established functional domain in which established pathogenic variants have been reported. A missense variant is a common mechanism. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline. |
| KCCC/NGS Laboratory, |
RCV000432136 | SCV004034968 | association | Chronic myelogenous leukemia, BCR-ABL1 positive | 2023-09-13 | criteria provided, single submitter | clinical testing | ABL1, a tyrosine kinase, is frequently altered by chromosomal translocations in leukemia. The BCR-ABL1 fusion is known to be oncogenic. The ABL1 T315I is a known resistance mutation. Diagnostic Summary: The presence of a BCR-ABL1 fusion is consistent with the diagnosis of chronic myeloid leukemia. Therapeutic Summary: The presence of the BCR-ABL1 fusion in myeloproliferative neoplasms is diagnostic of chronic myelogenous leukemia (CML). The NCCN considers the ABL1 T315I mutation as "contraindicated" for the therapies imatinib, dasatinib, nilotinib, and bosutinib in patients with BCR-ABL1 positive (+) CML. The multikinase inhibitor ponatinib and the BCR-ABL1 inhibitor asciminib are FDA approved for adult patients with ABL1 T315I+ BCRABL1 fusion+ CML. |
| OMIM | RCV000013459 | SCV000033706 | pathogenic | Leukemia, Philadelphia chromosome-positive, resistant to imatinib | 2015-03-05 | no assertion criteria provided | literature only | |
| Database of Curated Mutations |
RCV000432136 | SCV000505087 | likely pathogenic | Chronic myelogenous leukemia, BCR-ABL1 positive | 2016-03-10 | no assertion criteria provided | literature only | |
| Database of Curated Mutations |
RCV000442565 | SCV000505088 | likely pathogenic | Lymphoblastic leukemia, acute, with lymphomatous features | 2015-07-14 | no assertion criteria provided | literature only |