ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1239+8C>G (rs369265725)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472780 SCV000545822 uncertain significance Progressive myoclonic epilepsy 2016-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the SCARB2 gene. It does not directly change the encoded amino acid sequence of the SCARB2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SCARB2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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