Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000654324 | SCV000776214 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys245Leufs*7) in the CHRNB2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in CHRNB2 cause disease. This variant is present in population databases (rs780184576, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CHRNB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 543531). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002315982 | SCV000847621 | uncertain significance | Inborn genetic diseases | 2016-08-29 | criteria provided, single submitter | clinical testing | The c.734delG variant (also known as p.C245Lfs*7), located in coding exon 5 of the CHRNB2 gene, results from a deletion of one nucleotide at nucleotide position 734, causing a translational frameshift with a predicted alternate stop codon. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of CHRNB2 has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV001335438 | SCV001528588 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 3 | 2018-12-24 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
| Gene |
RCV001771908 | SCV002001924 | uncertain significance | not provided | 2020-12-11 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
| Athena Diagnostics | RCV001771908 | SCV005620633 | uncertain significance | not provided | 2024-09-30 | criteria provided, single submitter | clinical testing |