ClinVar Miner

Submissions for variant NM_004408.4(DNM1):c.199C>T (p.Arg67Cys)

gnomAD frequency: 0.00001  dbSNP: rs199575353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493465 SCV000582034 uncertain significance not provided 2018-06-19 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the DNM1 gene. The R67C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R67C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R67C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense variants in nearby residues have not been reported in Human Gene Mutation Database in association with DNM1-related disorders (Stenson et al., 2014). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001314326 SCV001504854 likely benign Developmental and epileptic encephalopathy, 31A 2025-01-28 criteria provided, single submitter clinical testing

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