Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851532 | SCV002232548 | pathogenic | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2021-09-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 13, but is expected to preserve the integrity of the reading-frame (PMID: 16964263). Experimental studies have shown that this variant affects ATP13A2 protein function (PMID: 21724849, 23499937). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 1219). This variant is also known as ATP13A2SKP13. This variant has been observed in individual(s) with clinical features of autosomal recessive Kufor-Rakeb syndrome (PMID: 16964263). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 13 of the ATP13A2 gene. It does not directly change the encoded amino acid sequence of the ATP13A2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. |
| OMIM | RCV000001278 | SCV000021428 | pathogenic | Kufor-Rakeb syndrome | 2011-08-26 | no assertion criteria provided | literature only |