ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.4411C>T (p.Arg1471Ter) (rs386834086)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050077 SCV000485837 likely pathogenic Cohen syndrome 2016-02-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000050077 SCV000699446 likely pathogenic Cohen syndrome 2016-12-22 criteria provided, single submitter clinical testing Variant summary: The c.4411C>T (p.Arg1471*) variant in VPS13B gene is a nonsense change that results in the loss of the 2025 amino acids of VPS13B (~63%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay. The variant of interest was observed in controls at an allele frequency of 0.00005 (6/121268 chrs tested), exclusively in individuals of European descent (0.00009; 6/66698 chrs tested). These frequencies do not exceed the predicted maximum expected allele frequency for a pathogenic variant in this gene (0.0025). The variant has been reported in at least 1 individual with clinical dx of Cohen syndrome in suspected compound heterozygosity with unknown large deletion or promoter variant. Lastly, at least one reputable database/clinical laboratory cite the variant with classification of Likely Pathogenic. Taking together, the variant was classified as Likely Pathogenic.
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050077 SCV000082486 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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