ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter) (rs121909118)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000488955 SCV000577552 pathogenic not provided 2017-03-17 criteria provided, single submitter clinical testing The Q288X nonsense variant in the SCARB2 gene has been reported previously in association with action myoclonus-renal failure syndrome and also progressive myoclonic epilepsy without renal failure (Berkovic et al., 2008; Dibbens et al., 2011). Functional analysis shows that Q288X disrupts the normal trafficking of the SCARB2 protein (Blanz et al., 2010). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, it was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, Q288X is interpreted to be a pathogenic variant.
OMIM RCV000007803 SCV000028004 pathogenic Epilepsy, progressive myoclonic 4, with or without renal failure 2011-06-01 no assertion criteria provided literature only
GeneReviews RCV000007803 SCV000328636 pathogenic Epilepsy, progressive myoclonic 4, with or without renal failure 2015-03-05 no assertion criteria provided literature only

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