ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)

dbSNP: rs1057516670
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410992 SCV000486036 likely pathogenic Cohen syndrome 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000410992 SCV000822247 pathogenic Cohen syndrome 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1016Ilefs*6) 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 (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with clinical features of Cohen syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 370665). For these reasons, this variant has been classified as Pathogenic.

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