Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053552 | SCV001217820 | pathogenic | Neurofibromatosis, type 1 | 2023-07-19 | 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: 849556). This variant is also known as 7113C>A (C2371*). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 25324867). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys2350*) 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). |
Gene |
RCV002245845 | SCV002513687 | pathogenic | not provided | 2022-05-13 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); Also known as c.7113C>A, p.Cys2371Ter; This variant is associated with the following publications: (PMID: 10712197, 23913538, 25324867) |
Genome- |
RCV001053552 | SCV002560235 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003413862 | SCV004109160 | pathogenic | NF1-related condition | 2023-01-23 | criteria provided, single submitter | clinical testing | The NF1 c.7113C>A variant is predicted to result in premature protein termination (p.Cys2371*). This variant was reported in an individual with neurofibromatosis type 1 (Kim et al. 2014. PubMed ID: 25324867). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in NF1 are expected to be pathogenic. This variant is interpreted as pathogenic. |