Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000687505 | SCV000815076 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-10-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs772414750, gnomAD no frequency). 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. ClinVar contains an entry for this variant (Variation ID: 567424). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 293 of the ATP13A2 protein (p.Met293Thr). |
| Ambry Genetics | RCV003258919 | SCV003954053 | uncertain significance | Inborn genetic diseases | 2023-03-22 | criteria provided, single submitter | clinical testing | The c.878T>C (p.M293T) alteration is located in exon 10 (coding exon 10) of the ATP13A2 gene. This alteration results from a T to C substitution at nucleotide position 878, causing the methionine (M) at amino acid position 293 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |