ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) (rs200053119)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188795 SCV000242419 pathogenic not provided 2016-03-07 criteria provided, single submitter clinical testing The R121X variant in the SCARB2 has been reported previously as a homozygous variant in an individual with progressive myoclonus epilepsy without renal failure (Fu et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Invitae RCV000698181 SCV000826828 pathogenic Progressive myoclonic epilepsy 2018-04-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg121*) in the SCARB2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs200053119, ExAC 0.02%). This variant has been reported in an individual affected with progressive myoclonus epilepsy (PMID: 23659519). ClinVar contains an entry for this variant (Variation ID: 206709). Loss-of-function variants in SCARB2 are known to be pathogenic (PMID: 19847901). For these reasons, this variant has been classified as Pathogenic.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000258860 SCV000898946 likely pathogenic Epilepsy, progressive myoclonic 4, with or without renal failure 2018-06-20 criteria provided, single submitter clinical testing SCARB2 NM_005506.3 exon 3 p.Arg121* (c.361C>T): This variant has been reported in the literature in 1 individual with progressive myoclonus epilepsy (Fu 2014 PMID:23659519). This variant is present in 2/245924 alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs200053119). Please note, disease causing variants may be present in control databases at low frequencies, reflective of the general population and/or variable expressivity. This variant is present in ClinVar (Variation ID:206709). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant creates a premature stop at this codon which results in an absent or abnormal protein. Loss of function variants have been reported in association with disease for this gene (Amrom 2015 PMID:26677510). In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic.
GeneReviews RCV000258860 SCV000328628 pathogenic Epilepsy, progressive myoclonic 4, with or without renal failure 2015-03-05 no assertion criteria provided literature only

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