Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001206006 | SCV001377292 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587223 | SCV001816348 | uncertain significance | not provided | 2020-11-19 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002561207 | SCV003693321 | uncertain significance | Inborn genetic diseases | 2022-08-26 | criteria provided, single submitter | clinical testing | The c.311A>C (p.D104A) alteration is located in exon 4 (coding exon 4) of the CHRNA4 gene. This alteration results from an A to C substitution at nucleotide position 311, causing the aspartic acid (D) at amino acid position 104 to be replaced by an alanine (A). Based on data from gnomAD, the C allele has an overall frequency of <0.001% (1/249224) total alleles studied. The highest observed frequency was 0.001% (1/112154) of European (non-Finnish) alleles. This amino acid position is not well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |