Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002351364 | SCV002645655 | likely benign | Inborn genetic diseases | 2018-07-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Invitae | RCV003096551 | SCV003263411 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-07-14 | criteria provided, single submitter | clinical testing | This sequence change affects codon 166 of the ATP13A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP13A2 protein. This variant is present in population databases (rs770121912, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. 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. |