Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000084668 | SCV002183236 | uncertain significance | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with arginine at codon 317 of the DTNBP1 protein (p.Pro317Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DTNBP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 98377). 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. 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. |
Psychiatry Genetics Yale University | RCV000084668 | SCV000116804 | not provided | not provided | no assertion provided | not provided |