Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474959 | SCV000563994 | uncertain significance | Lynch syndrome | 2016-10-18 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing exon 1 of the EPCAM gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the EPCAM gene. This duplication has not been reported in the literature in individuals with a EPCAM-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of this duplication is currently unknown. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on EPCAM protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance. |