Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233467 | SCV001406064 | pathogenic | Neurofibromatosis, type 1 | 2023-02-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser1755*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with neurofibromatosis type 1 (PMID: 10862084, 16835897, 23758643, 31370276). ClinVar contains an entry for this variant (Variation ID: 960019). For these reasons, this variant has been classified as Pathogenic. |
Genome Diagnostics Laboratory, |
RCV001233467 | SCV001479212 | pathogenic | Neurofibromatosis, type 1 | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001233467 | SCV002560114 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002339643 | SCV002643370 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2020-03-17 | criteria provided, single submitter | clinical testing | The p.S1755* pathogenic mutation (also known as c.5264C>G), located in coding exon 37 of the NF1 gene, results from a C to G substitution at nucleotide position 5264. This changes the amino acid from a serine to a stop codon within coding exon 37. This mutation has been detected in several Neurofibromatosis type 1 (NF1) cohorts, some of which fulfilled NIH diagnostic criteria (Nemethova M et al. Ann. Hum. Genet., 2013 Sep;77:364-79; Messiaen LM et al. Hum. Mutat., 2000;15:541-55; De Luca A et al. Hum. Mutat., 2004 Jun;23:629; Lee MJ et al. Hum. Mutat., 2006 Aug;27:832). 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. |
Genome |
RCV003483801 | SCV004228598 | not provided | Neurofibromatosis, type 1; Neurofibromatosis-Noonan syndrome; Café-au-lait macules with pulmonary stenosis | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 07-09-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |