ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)

dbSNP: rs1057516484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410476 SCV000485758 likely pathogenic Cohen syndrome 2016-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000410476 SCV004476354 pathogenic Cohen syndrome 2023-01-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370433). This premature translational stop signal has been observed in individual(s) with Cohen syndrome (PMID: 12730828). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2824*) 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).

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