Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660124 | SCV000782114 | pathogenic | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002440406 | SCV001189336 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2019-06-06 | criteria provided, single submitter | clinical testing | The p.Q2615* pathogenic mutation (also known as c.7843C>T), located in coding exon 53 of the NF1 gene, results from a C to T substitution at nucleotide position 7843. This changes the amino acid from a glutamine to a stop codon within coding exon 53. This alteration was identified in a cohort of Austrian patients fulfilling the NIH criteria for a clinical diagnosis of neurofibromatosis type 1 (NF-1) (Wimmer K et al. Hum. Mutat. 2007 Jun;28:599-612). In addition to the clinical data presented in the literature, 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. |
Invitae | RCV000660124 | SCV002187253 | pathogenic | Neurofibromatosis, type 1 | 2023-06-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2615*) 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 individual(s) with neurofibromatosis type 1 (PMID: 17311297). ClinVar contains an entry for this variant (Variation ID: 547698). RNA analysis provides insufficient evidence to determine the effect of this variant on NF1 splicing (Invitae). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000660124 | SCV002560592 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |