Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002359795 | SCV002651968 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-10-23 | criteria provided, single submitter | clinical testing | The p.S1933* pathogenic mutation (also known as c.5798C>A), located in coding exon 39 of the NF1 gene, results from a C to A substitution at nucleotide position 5798. This changes the amino acid from a serine to a stop codon within coding exon 39. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Baylor Genetics | RCV003471350 | SCV004199007 | likely pathogenic | Juvenile myelomonocytic leukemia | 2021-11-05 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003495284 | SCV004308654 | pathogenic | Neurofibromatosis, type 1 | 2023-09-20 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1749687). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 10862084, 21362601). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1933*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538). |