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 2019-07-05 criteria provided, single submitter clinical testing Variant summary: VPS13B c.4411C>T (p.Arg1471X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 2.4e-05 in 251262 control chromosomes. c.4411C>T has been reported in the literature in at-least one individual affected with Cohen Syndrome (Seifert_2009). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as likely pathogenic. Based on the evidence outlined above, 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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