Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000546871 | SCV000626137 | likely pathogenic | Fanconi anemia | 2018-01-31 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 13 of the SLX4 gene. While the exact position of the duplicated exons cannot be determined from this data, sub-genic duplications are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SLX4-related disease. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |