ClinVar Miner

Submissions for variant NC_000008.11:g.(?_99111088)_(99170173_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032182 SCV001195489 pathogenic Cohen syndrome 2019-09-16 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 6-16 of the VPS13B gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to segregate with Cohen syndrome in a large family (PMID: 18655112). Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). For these reasons, this variant has been classified as Pathogenic.

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