Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001040006 | SCV001203558 | pathogenic | Neurofibromatosis, type 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | This variant, c.3447_3448delinsTG, is a complex sequence change that results in the deletion and insertion of 2 amino acid(s) in the NF1 protein (p.Met1149_Ser1150delinsIleAla). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with NF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 838458). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the NF1 protein in which other variant(s) (p.Met1149Val) have been determined to be pathogenic (PMID: 3656349, 24711935, 28706617, 31595648; 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. For these reasons, this variant has been classified as Pathogenic. |