Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000733199 | SCV000572875 | uncertain significance | not provided | 2020-05-04 | criteria provided, single submitter | clinical testing | 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 |
Eurofins Ntd Llc |
RCV000733199 | SCV000861234 | uncertain significance | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001297224 | SCV001486231 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002402416 | SCV002712549 | uncertain significance | Inborn genetic diseases | 2020-01-31 | criteria provided, single submitter | clinical testing | The p.P562L variant (also known as c.1685C>T), located in coding exon 5 of the CHRNA4 gene, results from a C to T substitution at nucleotide position 1685. The proline at codon 562 is replaced by leucine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |