Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001314908 | SCV001505458 | uncertain significance | not provided | 2016-10-21 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a IKBKAP-related disease. This sequence change replaces leucine with isoleucine at codon 752 of the IKBKAP protein (p.Leu752Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. |
Natera, |
RCV000457066 | SCV002082091 | uncertain significance | Familial dysautonomia | 2021-07-12 | no assertion criteria provided | clinical testing |