ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)

dbSNP: rs1588449811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804727 SCV000944649 uncertain significance Developmental and epileptic encephalopathy, 31 2019-03-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 604 of the DNM1 protein (p.Glu604Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNM1-related disease. This variant is not present in population databases (ExAC no frequency).
Revvity Omics, Revvity RCV003489896 SCV003830450 uncertain significance not provided 2022-01-14 criteria provided, single submitter clinical testing

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