ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.465_467dup (p.Ile156_Arg157insMet) (rs1057518655)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415220 SCV000328717 likely pathogenic Epileptic encephalopathy, early infantile, 31 2015-01-29 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in DNM1 (NM_001005336.1, c.465_467dup) and PTEN (NM_000314.4, c.1003C>T) in one individual with reported features of global developmental delay with concern for regression, speech delay, hypotonia, macrocephaly, seizure disorder, swallowing difficulty. De novo missense variants in DNM1 were recently reported in five individuals with epileptic encephalopathy [PMID:25262651]. All affected individuals had severe to profound intellectual disability, hypotonia, and abnormal EEG [PMID:25262651].

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