Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001034682 | SCV000751662 | uncertain significance | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 658 of the IKBKAP protein (p.His658Arg). This variant is present in population databases (rs372151936, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with IKBKAP-related conditions. ClinVar contains an entry for this variant (Variation ID: 526200). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Counsyl | RCV000630697 | SCV000788969 | uncertain significance | Familial dysautonomia | 2016-12-23 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001034682 | SCV001714304 | uncertain significance | not provided | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000630697 | SCV002082102 | uncertain significance | Familial dysautonomia | 2020-02-12 | no assertion criteria provided | clinical testing |