ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.5594A>G (p.Gln1865Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV003225861 SCV003807942 uncertain significance Kleefstra syndrome 2 2022-05-16 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderated, BP4 supporting
Labcorp Genetics (formerly Invitae), Labcorp RCV005060951 SCV005722919 uncertain significance not provided 2024-11-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1865 of the KMT2C protein (p.Gln1865Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KMT2C-related conditions. ClinVar contains an entry for this variant (Variation ID: 2431734). 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 not expected to disrupt KMT2C 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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