ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1266C>T (p.Cys422=)

gnomAD frequency: 0.00006  dbSNP: rs121912274
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186941 SCV000240512 uncertain significance not provided 2014-01-14 criteria provided, single submitter clinical testing The c.1266 C>T splice site variant in the CHRNA4 gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico algorithms predict that the c.1266 C>T substitution could potentially introduce a new cryptic donor site that may supplant the natural site in exon 5 and lead to abnormal splicing. However, in the absence of RNA/Functional studies the actual effect of the c.1266 C>T sequence change is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant as mutations in CHRNA4 demonstrate incomplete penetrance (Hirose and Kurahashi, 2012). This variant has been observed to be maternally inherited. The variant is found in CHILD-EPI panel(s).
Invitae RCV000698144 SCV000826787 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2023-11-27 criteria provided, single submitter clinical testing
Psychiatry Genetics Yale University RCV000084602 SCV000116738 not provided Tobacco use disorder no assertion provided not provided

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