Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002233618 | SCV000824753 | uncertain significance | Autosomal dominant epilepsy with auditory features | 2018-04-14 | criteria provided, single submitter | clinical testing | 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 missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with LGI1-related disease. This variant is present in population databases (rs752672428, ExAC 0.002%). This sequence change replaces valine with alanine at codon 551 of the LGI1 protein (p.Val551Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. |