Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000196141 | SCV000255299 | uncertain significance | Lynch syndrome | 2016-01-01 | criteria provided, single submitter | clinical testing | This sequence change deletes 3 nucleotides from exon 6 of the EPCAM mRNA (c.598_600delTCT). This leads to the deletion of 1 amino acid residue in the EPCAM protein (p.Ser200del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775898569, ExAC <0.01%) but has not been reported in the literature in individuals with an EPCAM-related disease. ClinVar contains an entry for this variant (Variation ID: 216872). In summary, this is a rare in-frame deletion with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Invitae | RCV001306586 | SCV001495964 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2021-09-17 | criteria provided, single submitter | clinical testing | This variant, c.598_600del, results in the deletion of 1 amino acid(s) of the EPCAM protein (p.Ser200del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775898569, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with EPCAM-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |