ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)

gnomAD frequency: 0.00001  dbSNP: rs386834099
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000050092 SCV000487247 pathogenic Cohen syndrome 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV000050092 SCV002232982 pathogenic Cohen syndrome 2022-09-23 criteria provided, single submitter clinical testing This variant is present in population databases (rs386834099, gnomAD 0.03%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 56679). This premature translational stop signal has been observed in individuals with Cohen syndrome (PMID: 15141358). This sequence change creates a premature translational stop signal (p.Arg1943*) in the VPS13B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111).
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) RCV000050092 SCV000082501 probable-pathogenic Cohen syndrome no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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