ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.5618T>C (p.Ile1873Thr)

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Total submissions: 2
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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, Hospital Wels-Grieskirchen RCV003232849 SCV003929449 pathogenic Atypical chronic myeloid leukemia, BCR-ABL1 negative 2022-04-20 no assertion criteria provided clinical testing

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