ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile)

gnomAD frequency: 0.00003  dbSNP: rs797045554
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193717 SCV000247270 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764826 SCV000895982 uncertain significance Kleefstra syndrome 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000764826 SCV000950632 uncertain significance Kleefstra syndrome 1 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 881 of the EHMT1 protein (p.Thr881Ile). This variant is present in population databases (rs797045554, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 210920). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt EHMT1 protein function with a negative predictive value of 80%. 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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