Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Genetics and Molecular Medicine, |
RCV003882768 | SCV004030268 | pathogenic | Chorea-acanthocytosis | criteria provided, single submitter | clinical testing | The homozygous c.755-1G>A variant was confirmed in the patient by Sanger sequencing. His parents were both heterozygous for the c.755-1G>A variant. The variant c.755-1G>A was predicted by ASSP, NNSplice, and Netgene2 to disrupt the normal acceptor splice site. These programs identified an alternative splice acceptor site (ctttaattttccattctttAGtatttcagtattatggagct) located at the 3-prime end of intron 11, with scores of 8.395 (ASSP), 0.96 (NNsplice), and 0.27 (Netgene2). This alteration is expected to result in the skipping of exon 11, leading to a frameshift and the formation of a premature termination codon.this variant was not detected in control databases such as the 1000G, EVS, ExAC, and dbSNP or in the literature. Additionally, this variant was absent in the Iranome database. |