ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1187+2dup (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 2019-06-26 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs727502783, ExAC 0.001%). This variant has been observed in an individual affected with progressive myoclonic epilepsy without renal failure (PMID: 21670406). It is also known as c.1187+3insT in the literature. ClinVar contains an entry for this variant (Variation ID: 30259). Nucleotide substitutions within 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, but this prediction has not been confirmed by published transcriptional studies. 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 Epilepsy, progressive myoclonic 4, with or without renal failure 2011-06-01 no assertion criteria provided literature only
GeneReviews RCV000023185 SCV000328640 pathogenic Epilepsy, progressive myoclonic 4, with or without renal failure 2015-03-05 no assertion criteria provided literature only

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