Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000820643 | SCV000961363 | uncertain significance | Early-onset Lafora body disease | 2018-09-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with methionine at codon 651 of the PRDM8 protein (p.Glu651Met). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and methionine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with PRDM8-related disease. |