Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501183 | SCV000597971 | pathogenic | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000727460 | SCV000708735 | pathogenic | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000727460 | SCV001791140 | pathogenic | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614, 27535533) |
Invitae | RCV000727460 | SCV003500670 | likely pathogenic | not provided | 2023-04-09 | 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: 437291). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. This variant is present in population databases (rs199736219, gnomAD 0.04%). This sequence change affects a donor splice site in intron 29 of the WDR62 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 WDR62 are known to be pathogenic (PMID: 20729831). |