ClinVar Miner

Submissions for variant NM_003285.3(TNR):c.496A>G (p.Thr166Ala)

gnomAD frequency: 0.00407  dbSNP: rs147204644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210437 SCV000266511 uncertain significance Parkinson disease 2016-01-01 criteria provided, single submitter research
Invitae RCV000892783 SCV001036682 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892783 SCV002562955 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TNR: BP4, BS2
Ambry Genetics RCV002515585 SCV003625417 likely benign Inborn genetic diseases 2021-12-28 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.

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