Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002319367 | SCV001184768 | likely pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2023-09-29 | criteria provided, single submitter | clinical testing | The p.S1578F variant (also known as c.4733C>T), located in coding exon 35 of the NF1 gene, results from a C to T substitution at nucleotide position 4733. The serine at codon 1578 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This alteration has been identified in an individual meeting the NIH criteria for a clinical diagnosis of neurofibromatosis type 1 (Bendova S et al. J. Mol. Neurosci. 2007;31:273-9). Based on internal structural analysis, this variant is more disruptive than known pathogenic variants (Welti S et al. Hum Mutat. 2011 Feb;32(2):191-7; 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. |
| Genome Diagnostics Laboratory, |
RCV001290950 | SCV001479281 | uncertain significance | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003467670 | SCV004198423 | uncertain significance | Juvenile myelomonocytic leukemia | 2023-07-08 | criteria provided, single submitter | clinical testing |