Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV001009622 | SCV001161668 | pathogenic | Chorea-acanthocytosis | 2020-01-17 | criteria provided, single submitter | clinical testing | A Homozygous 5' splice site variation in intron 7 of the VPS13A gene that affects the invariant GT donor splice site of exon 7 was detected. The observed variant c.555+1G>A has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as pathogenic. |