Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003496348 | SCV004263840 | likely pathogenic | Combined deficiency of sialidase AND beta galactosidase | 2024-01-15 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 11 (c.1002+13_1008delinsAGA) of the CTSA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CTSA are known to be pathogenic (PMID: 15110321, 23915561). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CTSA-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |