Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002400199 | SCV001188325 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-05-31 | criteria provided, single submitter | clinical testing | The p.N2364D variant (also known as c.7090A>G), located in coding exon 47 of the NF1 gene, results from an A to G substitution at nucleotide position 7090. The asparagine at codon 2364 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV003327483 | SCV004034848 | uncertain significance | not provided | 2023-03-06 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25486365) |