Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761971 | SCV000892200 | likely pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001386218 | SCV001586358 | pathogenic | Fanconi anemia | 2020-05-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 623913). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln1205*) in the FANCA gene. It is expected to result in an absent or disrupted protein product. |