ClinVar Miner

Submissions for variant NM_152564.5(VPS13B):c.11745+5G>A

gnomAD frequency: 0.00003  dbSNP: rs398124328
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081875 SCV000113810 uncertain significance not provided 2013-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000667800 SCV000792304 uncertain significance Cohen syndrome 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000667800 SCV001412336 uncertain significance Cohen syndrome 2022-08-10 criteria provided, single submitter clinical testing This sequence change falls in intron 61 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. This variant is present in population databases (rs398124328, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with VPS13B-related conditions. ClinVar contains an entry for this variant (Variation ID: 95829). 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.
Natera, Inc. RCV000667800 SCV001466908 uncertain significance Cohen syndrome 2020-08-14 no assertion criteria provided clinical testing

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