ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) (rs1554772959)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000653150 SCV000775026 likely pathogenic Epileptic encephalopathy, early infantile, 31 2017-09-30 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 148 of the DNM1 protein (p.Gln148Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with epilepsy, psychomotor retardation and hypotonia (PMID: 27806796 [Paper in Chinese]). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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