Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003109119 | SCV003784356 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1873 of the TET2 protein (p.Ile1873Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This missense change has been observed in individual(s) with systemic mastocytosis with associated non-mast cell lineage disease (PMID: 22905207). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |
Institute of Laboratory Medicine, |
RCV003232849 | SCV003929449 | pathogenic | Atypical chronic myeloid leukemia, BCR-ABL1 negative | 2022-04-20 | no assertion criteria provided | clinical testing |