Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319199 | SCV001174822 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-01-25 | criteria provided, single submitter | clinical testing | The c.2032_2034delCCGinsGCA variant, located in coding exon 18 of the NF1 gene, results from an in-frame deletion of CCG and insertion of GCA at nucleotide positions 2032 to 2034. This results in the substitution of the proline residue for an alanine residue at codon 678, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Gene |
RCV003332283 | SCV004039682 | uncertain significance | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports 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) |