ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)

dbSNP: rs145142528
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442690 SCV000535372 likely benign not specified 2016-12-27 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 RCV001495768 SCV001700457 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-05-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429457 SCV002741164 likely benign Inborn genetic diseases 2017-05-31 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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