Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001386979 | SCV001587442 | pathogenic | Combined deficiency of sialidase AND beta galactosidase | 2023-06-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CTSA-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1073864). This variant is present in population databases (rs745743780, gnomAD 0.009%). This sequence change creates a premature translational stop signal (p.Cys349Alafs*36) in the CTSA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CTSA are known to be pathogenic (PMID: 15110321, 23915561). |