Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002319200 | SCV001174823 | uncertain significance | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2022-03-14 | criteria provided, single submitter | clinical testing | The c.2032_2034delCCGinsTCA variant (also known as p.P678S), located in coding exon 18 of the NF1 gene, results from an in-frame deletion of CCG and insertion of TCA at nucleotide positions 2032 to 2034. This results in the substitution of the proline residue for a serine residue at codon 678, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |