Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001327419 | SCV001518494 | pathogenic | not provided | 2021-12-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 995439). This variant has not been reported in the literature in individuals affected with SRCAP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His50Thrfs*2) in the SRCAP gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SRCAP are known to be pathogenic (PMID: 33909990). |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001391090 | SCV001477332 | likely pathogenic | Neurodevelopmental disorder | 2021-01-10 | no assertion criteria provided | research |