ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln)

gnomAD frequency: 0.00619  dbSNP: rs73826386
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127867 SCV000171450 benign not specified 2014-03-12 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.
PreventionGenetics, part of Exact Sciences RCV000127867 SCV000311099 benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000421847 SCV000511686 benign not provided 2017-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080699 SCV000557614 benign Progressive myoclonic epilepsy 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312924 SCV000847526 benign Inborn genetic diseases 2018-10-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

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