ClinVar Miner

Submissions for variant NM_018668.4(VPS33B):c.96+1G>T (rs1567232168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000723216 SCV001577726 likely pathogenic not provided 2017-07-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 1 of the VPS33B gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with VPS33B-related disease. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in VPS33B are known to be pathogenic (PMID: 16896922). 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.
Gharavi Laboratory,Columbia University RCV000723216 SCV000854347 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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