Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228632 | SCV000287363 | uncertain significance | Lynch syndrome | 2016-01-29 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the EPCAM mRNA. It does not directly change the encoded amino acid sequence of the EPCAM protein. This variant is present in population databases (rs768723264, ExAC 0.01%) but has not been reported in the literature in individuals with a EPCAM-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. |