ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.704+1G>A

gnomAD frequency: 0.00001  dbSNP: rs886041076
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001385676 SCV001585622 pathogenic Progressive myoclonic epilepsy 2022-06-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 268139). Disruption of this splice site has been observed in individuals with SCARB2-related conditions (PMID: 19847901, 22767442). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 5 of the SCARB2 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 SCARB2 are known to be pathogenic (PMID: 19847901).
Revvity Omics, Revvity RCV000258872 SCV002019997 pathogenic Action myoclonus-renal failure syndrome 2020-10-23 criteria provided, single submitter clinical testing
GeneReviews RCV000258872 SCV000328633 not provided Action myoclonus-renal failure syndrome no assertion provided literature only

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