ClinVar Miner

Submissions for variant NC_000008.10:g.(?_100778144)_(100779154_?)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 RCV002027991 SCV002316242 likely pathogenic Cohen syndrome 2023-12-17 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 40 (c.7126-858_7278del) of the VPS13B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VPS13B are known to be pathogenic (PMID: 15141358, 16648375, 20461111). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. 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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