ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.83-1G>A

gnomAD frequency: 0.00001  dbSNP: rs770269674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV002051690 SCV000249391 pathogenic Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2014-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003678982 SCV004426321 likely pathogenic not provided 2023-12-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the VLDLR 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 VLDLR are known to be pathogenic (PMID: 18043714, 18326629, 22532556). This variant is present in population databases (rs770269674, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with VLDLR-related conditions. ClinVar contains an entry for this variant (Variation ID: 212565). 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 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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