Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001974109 | SCV002265912 | uncertain significance | Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 | 2022-03-15 | 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with ATP13A2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change affects codon 953 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 also falls at the last nucleotide of exon 25, which is part of the consensus splice site for this exon. |