Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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, |
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, |
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, |
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. |