ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.1285G>A (p.Gly429Arg)

gnomAD frequency: 0.00056  dbSNP: rs201642693
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002517604 SCV003259578 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 429 of the TET2 protein (p.Gly429Arg). This variant is present in population databases (rs201642693, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with TET2-related conditions. ClinVar contains an entry for this variant (Variation ID: 135318). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Baylor Genetics RCV003147341 SCV003835255 uncertain significance Immunodeficiency 75 2022-08-08 criteria provided, single submitter clinical testing
GeneDx RCV002517604 SCV003936371 uncertain significance not provided 2023-06-28 criteria provided, single submitter clinical testing Identified in a bone marrow specimen from an individual with AML in published literature (Li et al., 2016) and in either a bone marrow specimen or in peripheral blood of an unrelated individual with AML (Gaidzik et al., 2012); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22430270, 24728327, 36580013, 26414667)
ITMI RCV000122133 SCV000086348 not provided not specified 2013-09-19 no assertion provided reference population

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