ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.1019T>C (p.Ile340Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004874622 SCV005511923 uncertain significance not specified 2024-11-18 criteria provided, single submitter clinical testing The p.I340T variant (also known as c.1019T>C), located in coding exon 1 of the TET2 gene, results from a T to C substitution at nucleotide position 1019. The isoleucine at codon 340 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061608 SCV005722757 uncertain significance not provided 2024-07-27 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 340 of the TET2 protein (p.Ile340Thr). This variant is present in population databases (rs368403190, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TET2-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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