ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.246G>C (p.Arg82=)

gnomAD frequency: 0.00116  dbSNP: rs35035064
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000188786 SCV000227365 likely benign not specified 2016-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000188786 SCV000242410 benign not specified 2015-01-16 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.
Invitae RCV001087551 SCV000557615 benign Progressive myoclonic epilepsy 2024-01-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000472450 SCV001145445 benign not provided 2018-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444703 SCV002733920 likely benign Inborn genetic diseases 2019-02-23 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.
Fulgent Genetics, Fulgent Genetics RCV002505253 SCV002811331 likely benign Action myoclonus-renal failure syndrome 2021-10-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947490 SCV004762587 likely benign SCARB2-related condition 2019-11-13 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).

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