ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) (rs386834068)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000081876 SCV000113811 uncertain significance not provided 2013-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717810 SCV000848670 uncertain significance History of neurodevelopmental disorder 2018-12-07 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000050055 SCV000899088 uncertain significance Cohen syndrome 2018-02-02 criteria provided, single submitter clinical testing VPS13B NM_017890.4 exon 62 p.Asp3942_dup (c.11825_11827dupATG): This variant has been reported in the literature as a compound heterozygote (in trans with a multi-exon deletion of this gene) in 1 individual with a diagnosis of Cohen syndrome (Rivera-Brugues 2011 PMID:20921020, gene identified as alternate name COH1). However, this variant is present in 0.4% (100/24024) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs558633643). This variant is present in ClinVar (Variation ID:56642). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents a duplication of 1 amino acid at position 3942 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000050055 SCV000963968 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000050055 SCV001137692 uncertain significance Cohen syndrome 2019-05-28 criteria provided, single submitter clinical testing
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050055 SCV000082464 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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