Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035120 | SCV001198435 | pathogenic | Neurofibromatosis, type 1 | 2022-10-07 | 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: 834435). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 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). |
St. |
RCV001035120 | SCV002584614 | pathogenic | Neurofibromatosis, type 1 | 2022-09-06 | criteria provided, single submitter | clinical testing | The NF1 c.5798C>G (p.Ser1933Ter) change is a nonsense variant that is predicted to cause premature protein truncation or absence of the protein due to nonsense mediated decay. This variant has been observed in individuals with Neurofibromatosis type 1 (PMID: 21362601, internal data). This variant is also known as p.Ser1954Ter in the literature. This variant is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Loss-of-function variants in NF1 are known to be pathogenic (PMID: 9003501, 10712197). In summary, this variant meets criteria to be classified as pathogenic. |
Ambry Genetics | RCV002354972 | SCV002651969 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2021-06-21 | criteria provided, single submitter | clinical testing | The p.S1933* pathogenic mutation (also known as c.5798C>G), located in coding exon 39 of the NF1 gene, results from a C to G 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. |