ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.9742+2dup

gnomAD frequency: 0.00002  dbSNP: rs770968105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001929598 SCV002198641 uncertain significance Cohen syndrome 2021-09-15 criteria provided, single submitter clinical testing This sequence change falls in intron 53 of the VPS13B gene. It does not directly change the encoded amino acid sequence of the VPS13B protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs770968105, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV001929598 SCV002792493 uncertain significance Cohen syndrome 2022-02-14 criteria provided, single submitter clinical testing

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