ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)

dbSNP: rs765302278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409484 SCV000486848 likely pathogenic Cohen syndrome 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000409484 SCV001589155 pathogenic Cohen syndrome 2023-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln2879Argfs*8) 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). This variant is present in population databases (rs765302278, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 371300). For these reasons, this variant has been classified as Pathogenic.

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