ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.3446-382_3463del

dbSNP: rs1588410519
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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 RCV000792458 SCV000931759 likely pathogenic Cohen syndrome 2019-08-12 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 24 (c.3446-388_3457del) of the VPS13B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with VPS13B-related disease. Loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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