ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) (rs1554781553)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653152 SCV000775028 likely pathogenic Epileptic encephalopathy, early infantile, 31 2018-02-23 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 539 of the DNM1 protein (p.Lys539Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with seizures and developmental delay (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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