ClinVar Miner

Submissions for variant NM_000744.6(CHRNA4):c.799C>T (p.Leu267=) (rs121912256)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767932 SCV000898608 uncertain significance Epilepsy, nocturnal frontal lobe, type 1 2017-10-11 criteria provided, single submitter clinical testing CHRNA4 NM_000744.6 exon 5 p.Leu267= (c.799C>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Psychiatry Genetics Yale University RCV000084627 SCV000116763 not provided Tobacco use disorder no assertion provided not provided

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