Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660056 | SCV000782022 | uncertain significance | Neurofibromatosis, type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000660056 | SCV001577140 | pathogenic | Neurofibromatosis, type 1 | 2023-07-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant, c.4306_4308del, results in the deletion of 1 amino acid(s) of the NF1 protein (p.Lys1436del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with neurofibromatosis type 1 (Invitae). ClinVar contains an entry for this variant (Variation ID: 547644). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Lys1436Gln) have been determined to be pathogenic (PMID: 21520333, 22807134, 24789688; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. |
Gene |
RCV003226965 | SCV003923658 | likely pathogenic | not provided | 2023-07-07 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22807134, 25486365) |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV004554818 | SCV005043859 | likely pathogenic | Neurofibromatosis-Noonan syndrome | 2024-02-20 | criteria provided, single submitter | clinical testing | PS4_Supporting, PM1_Supporting, PM2, PM4 |