ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.445G>A (p.Val149Met) (rs147159813)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188787 SCV000242411 likely benign not specified 2018-02-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000188787 SCV000248789 uncertain significance not specified 2015-04-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725214 SCV000335038 uncertain significance not provided 2017-11-08 criteria provided, single submitter clinical testing
Invitae RCV000472503 SCV000557612 likely benign Progressive myoclonic epilepsy 2017-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000188787 SCV000615020 uncertain significance not specified 2017-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715788 SCV000846619 likely benign Seizures 2017-06-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768072 SCV000898943 uncertain significance Epilepsy, progressive myoclonic 4, with or without renal failure 2017-11-07 criteria provided, single submitter clinical testing SCARB2 NM_005506.3 exon 4 p.Val149Met (c.445G>A): This variant has not been reported in the literature but is present in 0.3% (437/126510) of European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs147159813). This variant is present in ClinVar (Variation ID:206701). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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