ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.1390A>G (p.Ile464Val)

gnomAD frequency: 0.00003  dbSNP: rs992608425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521150 SCV000619566 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DNM1 gene. The I464V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I464V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I464V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV001051028 SCV001215161 likely benign Developmental and epileptic encephalopathy, 31 2023-08-17 criteria provided, single submitter clinical testing

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