Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809888 | SCV000950069 | uncertain significance | Developmental and epileptic encephalopathy, 31 | 2018-12-21 | criteria provided, single submitter | clinical testing | This variant, c.643_646delinsA, is a complex sequence change that results in the deletion of 2 amino acids of the DNM1 protein, and insertion of 1 amino acid (p.Asp215_Ala216delinsThr). This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with West syndrome (Invitae). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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. |