ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.674G>A (p.Arg225Gln)

gnomAD frequency: 0.00004  dbSNP: rs1294543188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813737 SCV000954108 uncertain significance Kleefstra syndrome 1 2023-02-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 225 of the EHMT1 protein (p.Arg225Gln). This variant is not present in population databases (gnomAD no frequency). 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: 657172). 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. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814240 SCV002061851 uncertain significance not provided 2021-05-06 criteria provided, single submitter clinical testing BP4, PM2

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