ClinVar Miner

Submissions for variant NM_182931.3(KMT2E):c.142A>G (p.Ser48Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003873685 SCV004679338 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 48 of the KMT2E protein (p.Ser48Gly). This variant is present in population databases (rs780152679, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with KMT2E-related conditions. ClinVar contains an entry for this variant (Variation ID: 3015598). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt KMT2E protein function with a positive 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.
PreventionGenetics, part of Exact Sciences RCV003949079 SCV004766019 likely benign KMT2E-related disorder 2023-06-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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