ClinVar Miner

Submissions for variant NM_000746.6(CHRNA7):c.241-1G>A

dbSNP: rs1566846736
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679952 SCV000807386 pathogenic Epilepsy, idiopathic generalized, susceptibility to, 7 2017-09-01 flagged submission clinical testing This splice mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found once in our laboratory inherited in a 6-year-old female with epilepsy, myoclonus, dysphagia, developmental delay, ataxia, behavioral problems, and sleep disturbances. However, an additional de novo mutation in a separate gene was also present.

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