ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1647A>C (p.Glu549Asp)

gnomAD frequency: 0.00001  dbSNP: rs779709777
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048884 SCV001212912 uncertain significance Kleefstra syndrome 1 2023-02-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 549 of the EHMT1 protein (p.Glu549Asp). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 845758). This variant has not been reported in the literature in individuals affected with EHMT1-related conditions. This variant is present in population databases (rs779709777, gnomAD 0.002%).
GeneDx RCV001593219 SCV001822578 likely benign not provided 2020-12-15 criteria provided, single submitter clinical testing

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