ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)

dbSNP: rs1554884575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672369 SCV000797467 likely pathogenic Cohen syndrome 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003411582 SCV004111023 likely pathogenic VPS13B-related disorder 2023-03-14 criteria provided, single submitter clinical testing The VPS13B c.5226dupT variant is predicted to result in premature protein termination (p.Lys1743*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. However, nonsense variants in VPS13B are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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