ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)

dbSNP: rs1554590433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673052 SCV000798218 uncertain significance Cohen syndrome 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000673052 SCV004386149 pathogenic Cohen syndrome 2023-05-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the VPS13B protein in which other variant(s) (p.Lys3991Leufs*23) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 556977). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro3977Asnfs*16) in the VPS13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 46 amino acid(s) of the VPS13B protein.

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