Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001334342 | SCV001527157 | pathogenic | Neurofibromatosis, type 1 | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001840797 | SCV002099592 | pathogenic | not provided | 2022-02-23 | 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 at significant frequency in large population cohorts (gnomAD); Observed in individuals with suspected or clinically diagnosed neurofibromatosis type 1 and an individual with embryonal rhabdomyosarcoma referred for genetic testing at GeneDx and in published literature (Messiaen et al., 2000; Li et al., 2020); This variant is associated with the following publications: (PMID: 25525159, 10862084, 33372952, 27535533) |
Invitae | RCV001334342 | SCV002241305 | pathogenic | Neurofibromatosis, type 1 | 2022-03-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln1174*) 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 premature translational stop signal has been observed in individual(s) with clinical feature of neurofibromatosis type 1 and/or embryonal rhabdomyosarcoma (PMID: 10862084, 33372952). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 978806). |
Genome- |
RCV001334342 | SCV002559967 | pathogenic | Neurofibromatosis, type 1 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003416134 | SCV004114509 | pathogenic | NF1-related condition | 2022-11-23 | criteria provided, single submitter | clinical testing | The NF1 c.3520C>T variant is predicted to result in premature protein termination (p.Gln1174*). This variant has been reported in individuals with neurofibromatosis type 1 (see for example - Messiaen et al. 2000. PubMed ID: 10862084). 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. |
Human Genome Sequencing Center Clinical Lab, |
RCV001257535 | SCV001434361 | likely pathogenic | Rhabdomyosarcoma | 2020-09-01 | no assertion criteria provided | provider interpretation |