Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002434406 | SCV001189253 | pathogenic | Hereditary cancer-predisposing syndrome; Cardiovascular phenotype | 2018-10-02 | criteria provided, single submitter | clinical testing | The c.7775delC pathogenic mutation, located in coding exon 52 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7775, causing a translational frameshift with a predicted alternate stop codon (p.P2592Rfs*11). 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 | RCV001862383 | SCV002231894 | pathogenic | Neurofibromatosis, type 1 | 2021-12-01 | 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: 827252). This variant is also known as c.7774delC or c.7838_7838delC (p.Pro2613Argfsx11). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 28068329, 30308447). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro2592Argfs*11) 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). |
Genome- |
RCV001862383 | SCV002560590 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing |