ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)

dbSNP: rs1408744761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666116 SCV000790359 likely pathogenic Cohen syndrome 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000666116 SCV002237204 pathogenic Cohen syndrome 2021-05-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 551135). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met437*) 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).

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