Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654318 | SCV000776208 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440383 | SCV002748448 | likely benign | Inborn genetic diseases | 2018-04-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003488769 | SCV004241877 | uncertain significance | not specified | 2023-12-01 | criteria provided, single submitter | clinical testing | Variant summary: CHRNA2 c.1117T>C (p.Cys373Arg) results in a non-conservative amino acid change located in the Neurotransmitter-gated ion-channel transmembrane domain of the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 248822 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1117T>C in individuals affected with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 4 and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |