ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)

dbSNP: rs1554590486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673279 SCV000798463 uncertain significance Cohen syndrome 2018-03-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000673279 SCV005833530 pathogenic Cohen syndrome 2024-02-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys3991Cysfs*2) in the VPS13B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the VPS13B protein. This variant is not present in population databases (gnomAD no frequency). 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: 557172). 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. For these reasons, this variant has been classified as Pathogenic.

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