ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)

dbSNP: rs1554952465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672503 SCV000797612 likely pathogenic Cohen syndrome 2018-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672503 SCV002165567 pathogenic Cohen syndrome 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala2463Argfs*39) 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 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: 556489). For these reasons, this variant has been classified as Pathogenic.

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