Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| MGZ Medical Genetics Center | RCV002289081 | SCV002581511 | likely pathogenic | Neurofibromatosis, type 1 | 2023-02-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004558921 | SCV005047725 | likely pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-08-10 | criteria provided, single submitter | clinical testing | The p.A1155D variant (also known as c.3464C>A), located in coding exon 26 of the NF1 gene, results from a C to A substitution at nucleotide position 3464. The alanine at codon 1155 is replaced by aspartic acid, an amino acid with dissimilar properties. This alteration was identified in 1 of 1985 patients with a clinical diagnosis or symptoms of NF1 and was determined to be the result of a de novo mutation or germline mosaicism (van Minkelen R et al. Clin Genet, 2014 Apr;85:318-27). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with NF1-related disease (Ambry internal data). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |