Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002541348 | SCV003212194 | likely pathogenic | Sphingolipid activator protein 1 deficiency | 2022-06-28 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1330309). This variant has not been reported in the literature in individuals affected with PSAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 9 of the PSAP 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 PSAP are known to be pathogenic (PMID: 8554069, 11309366, 17616409, 19267410, 30632081). |
Fatma Al Jasmi Lab, |
RCV001801340 | SCV002047459 | pathogenic | Gaucher disease due to saposin C deficiency | no assertion criteria provided | clinical testing | wide heterogeneity in the patients’ age of onset and symptoms ranging from Gaucher-like type 3 phenotype with severe refractory myoclonic epilepsy to Gaucher-like type 1 phenotype with growth retardation and hepatosplenomegaly. |