Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001978700 | SCV002209979 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-12-01 | 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 not expected to disrupt ATP13A2 protein function. This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1069 of the ATP13A2 protein (p.Ala1069Glu). |
Ambry Genetics | RCV002562199 | SCV003647717 | uncertain significance | Inborn genetic diseases | 2022-10-27 | criteria provided, single submitter | clinical testing | The c.3206C>A (p.A1069E) alteration is located in exon 27 (coding exon 27) of the ATP13A2 gene. This alteration results from a C to A substitution at nucleotide position 3206, causing the alanine (A) at amino acid position 1069 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV003481209 | SCV004227777 | uncertain significance | not provided | 2023-06-02 | criteria provided, single submitter | clinical testing | BP4, PM2 |