Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003857632 | SCV004661463 | uncertain significance | Familial hemiplegic migraine | 2023-05-09 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ATP1A2 protein function. This variant has not been reported in the literature in individuals affected with ATP1A2-related conditions. This variant is present in population databases (rs748084473, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 262 of the ATP1A2 protein (p.Arg262Trp). |
Clinical Genetics Laboratory, |
RCV004697320 | SCV005199632 | uncertain significance | not provided | 2023-04-24 | criteria provided, single submitter | clinical testing |