Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002535752 | SCV002953086 | pathogenic | Neurofibromatosis, type 1 | 2023-06-22 | 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: 635819). This variant is also known as c.2385del (p.P795fs). This premature translational stop signal has been observed in individual(s) with neurofibromatosis type 1 (PMID: 31533651). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala797Profs*24) 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). |
Department of Ophthalmology, |
RCV000787329 | SCV000926271 | pathogenic | Neurofibroma | 2019-06-29 | no assertion criteria provided | clinical testing |