ClinVar Miner

Submissions for variant NM_000742.4(CHRNA2):c.987C>T (p.Gly329=) (rs147530139)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186896 SCV000240467 uncertain significance not provided 2014-06-26 criteria provided, single submitter clinical testing p.Gly329Gly (G329G) GGC>GGT: c.987 C>T in exon 6 of the CHRNA2 gene (NM_000742.3). The c.987 C>T variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The c.987 C>T variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. Multiple in silico algorithms predict that c.987 C>T could potentially create a cryptic donor site in exon 6 that may supplant the natural donor site. However, to our knowledge, no splice mutations have been reported in the CHRNA2 gene, and in the absence of RNA/functional studies, the actual effect of c.987 C>T is unknown. The variant is found in EPILEPSY panel(s).
Invitae RCV000186896 SCV000562071 benign not provided 2016-11-22 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.