ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.486C>T (p.Ala162=)

gnomAD frequency: 0.00054  dbSNP: rs143518519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725952 SCV000340790 uncertain significance not provided 2016-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000354044 SCV000514474 benign not specified 2015-08-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001089343 SCV000636465 likely benign Progressive myoclonic epilepsy 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338848 SCV002639505 likely benign Inborn genetic diseases 2017-06-14 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003957474 SCV004772305 likely benign SCARB2-related disorder 2019-07-18 no assertion criteria provided 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).

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