ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)

dbSNP: rs1301330402
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668681 SCV000793322 likely pathogenic Cohen syndrome 2017-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000668681 SCV004679084 pathogenic Cohen syndrome 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3339delinsLeu*) 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 0.0009%). 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: 553273). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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