ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3514+1G>A

gnomAD frequency: 0.00002  dbSNP: rs199736219
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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 (ga) RCV000727460 SCV000708735 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx 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).

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