ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003609420 SCV004380667 uncertain significance Kleefstra syndrome 1 2023-03-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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 expected to disrupt EHMT1 protein function. This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This sequence change replaces leucine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 720 of the EHMT1 protein (p.Leu720Trp).
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV003609420 SCV005045891 benign Kleefstra syndrome 1 criteria provided, single submitter curation
GeneDx RCV004593385 SCV005079351 uncertain significance not provided 2023-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (gnomAD)

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