ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs)

dbSNP: rs2130179734
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390727 SCV001592530 pathogenic Cohen syndrome 2023-06-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076736). 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.Asn2072Lysfs*8) 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).
Fulgent Genetics, Fulgent Genetics RCV001390727 SCV005667381 likely pathogenic Cohen syndrome 2024-05-07 criteria provided, single submitter clinical testing

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