Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226612 | SCV000283584 | uncertain significance | Fanconi anemia | 2021-09-07 | criteria provided, single submitter | clinical testing | In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a FANCC-related disease. This variant affects a highly conserved nucleotide within the consensus splice site of intron 13. The majority of introns (75%-85%) have a G at this position (PMID: 9536098).. |
Counsyl | RCV000673601 | SCV000798824 | uncertain significance | Fanconi anemia complementation group C | 2018-03-26 | criteria provided, single submitter | clinical testing |