ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.3965T>C (p.Leu1322Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003104521 SCV003780992 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TET2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1322 of the TET2 protein (p.Leu1322Pro). 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. 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.

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