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

gnomAD frequency: 0.00217  dbSNP: rs147159813

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000725214	SCV000242411	likely benign	not provided	2021-05-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18308289)
Genetic Services Laboratory, University of Chicago	RCV000188787	SCV000248789	likely benign	not specified	2020-09-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725214	SCV000335038	uncertain significance	not provided	2017-11-08	criteria provided, single submitter	clinical testing
Invitae	RCV001085976	SCV000557612	likely benign	Progressive myoclonic epilepsy	2024-01-28	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000725214	SCV000615020	benign	not provided	2019-06-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311280	SCV000846619	likely benign	Inborn genetic diseases	2018-08-07	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000768072	SCV000898943	uncertain significance	Action myoclonus-renal failure syndrome	2021-03-30	criteria provided, single submitter	clinical testing	SCARB2 NM_005506 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.
PreventionGenetics, part of Exact Sciences	RCV003907663	SCV004722200	likely benign	SCARB2-related condition	2021-02-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000188787	SCV001931659	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000188787	SCV001968589	benign	not specified		no assertion criteria provided	clinical testing