ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1667C>G (p.Pro556Arg)

dbSNP: rs77345643
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523978 SCV000621122 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001089159 SCV000821668 likely benign Autosomal dominant nocturnal frontal lobe epilepsy 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764254 SCV000895259 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767930 SCV000898606 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1 2018-07-31 criteria provided, single submitter clinical testing CHRNA4 NM_000744.6 exon 5 p.Pro556Arg (c.1667C>G): This variant has not been reported in the literature but is present in 1/17128 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs77345643). This variant is present in ClinVar (Variation ID:452325). This variant amino acid Arginine (Arg) is present in >30 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000764254 SCV003919800 uncertain significance Autosomal dominant nocturnal frontal lobe epilepsy 1; Tobacco addiction, susceptibility to 2022-09-15 criteria provided, single submitter clinical testing CHRNA4 NM_000744.6 exon 5 p.Pro556Arg (c.1667C>G): This variant has not been reported in the literature but is present in 1/17128 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs77345643). This variant is present in ClinVar (Variation ID:452325). This variant amino acid Arginine (Arg) is present in >30 species and is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.