ClinVar Miner

Submissions for variant NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) (rs199692186)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000655986 SCV000588262 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118298 SCV000700613 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing
GeneDx RCV000118298 SCV000279167 uncertain significance not provided 2018-09-19 criteria provided, single submitter clinical testing The Y990C variant has been reported previously in two individuals with Rolandic epilepsy; however, additional information was not provided (Bobbili et al., 2018). The Y990C variant is observed in 35/6312 (0.6%) alleles from individuals of Ashkenazi Jewish background in large population cohorts (Lek et al., 2016). The Y990C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genetic Services Laboratory, University of Chicago RCV000118298 SCV000152671 uncertain significance not provided 2013-08-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287615 SCV000418515 likely benign Severe myoclonic epilepsy in infancy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344839 SCV000418516 likely benign Generalized epilepsy with febrile seizures plus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391228 SCV000418517 likely benign Small fiber neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000309869 SCV000418518 likely benign Familial Febrile Seizures 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366834 SCV000418519 likely benign Inherited Erythromelalgia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391236 SCV000418520 likely benign Congenital Indifference to Pain 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313714 SCV000418521 likely benign Paroxysmal extreme pain disorder 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474257 SCV000548364 likely benign Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2017-10-31 criteria provided, single submitter clinical testing
PreventionGenetics RCV000222414 SCV000309310 likely benign not specified 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.