ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del)

dbSNP: rs863224840
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Total submissions: 2
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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.

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