ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1187+2dup

gnomAD frequency: 0.00001  dbSNP: rs727502783
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001203978 SCV001375163 uncertain significance Progressive myoclonic epilepsy 2022-08-29 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the SCARB2 gene. It does not directly change the encoded amino acid sequence of the SCARB2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs727502783, gnomAD 0.002%). This variant has been observed in individual(s) with progressive myoclonic epilepsy without renal failure (PMID: 21670406). This variant is also known as c.1187+3insT. ClinVar contains an entry for this variant (Variation ID: 30259). 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.
OMIM RCV000023185 SCV000044476 pathogenic Action myoclonus-renal failure syndrome 2011-06-01 no assertion criteria provided literature only
GeneReviews RCV000023185 SCV000328640 pathogenic Action myoclonus-renal failure syndrome 2015-03-05 no assertion criteria provided literature only

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