Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767963 | SCV000898680 | uncertain significance | Fanconi anemia complementation group L | 2017-09-18 | criteria provided, single submitter | clinical testing | FANCL NM_018062.3 exon2 p.Lys49_Asn50delinsAsnTyr (c.147_148delinsTT): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant represents an in-frame deletion of 2 amino acids (Lysine and Asparagine) at position 49 and 50 and the insertion of 2 amino acids (Asparagine and Tyrosine) at these same positions. This variant is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV001855968 | SCV002132410 | uncertain significance | Fanconi anemia | 2024-01-29 | criteria provided, single submitter | clinical testing | This variant, c.147_148delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the FANCL protein (p.Lys49_Asn50delinsAsnTyr). 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 FANCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 625941). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV000767963 | SCV002777131 | uncertain significance | Fanconi anemia complementation group L | 2022-02-01 | criteria provided, single submitter | clinical testing |