Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Breda Genetics srl | RCV001078174 | SCV001190370 | likely pathogenic | Syndromic X-linked intellectual disability Claes-Jensen type | 2019-07-09 | criteria provided, single submitter | clinical testing | The variant affects the donor splice site of intron 15 and is therefore highly likely to impact the splicing process by causing the retention of the following intron and the formation of an aberrant mRNA, which is unlikely to be exported and translated into protein. This variant has not been reported in dbSNP, gnomAD, 1000 Genomes, NHLI Exome Sequencing Project (ESP) or ClinVar. Pathogenic splicing variants have already been reported in literature (PMID: 18697827, 25644381). |