Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528758 | SCV000648589 | uncertain significance | Neuroblastoma, susceptibility to, 3 | 2017-03-30 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 1 of the ALK gene. While the exact position of the duplicated exons cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a ALK-related disease. Experimental studies and prediction algorithms are not available for this variant, and its functional significance is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on ALK protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |