ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)

dbSNP: rs774357106
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412084 SCV000485960 likely pathogenic Cohen syndrome 2016-03-07 criteria provided, single submitter clinical testing
Invitae RCV000412084 SCV002196670 pathogenic Cohen syndrome 2023-06-07 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: 370602). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is present in population databases (rs774357106, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile3284Phefs*32) 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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