ClinVar Miner

Submissions for variant NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) (rs147494515)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229217 SCV000287349 uncertain significance Lynch syndrome 2016-08-11 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 60 of the EPCAM protein (p.Ser60Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs147494515, ExAC no frequency) but has not been reported in the literature in individuals with a EPCAM-related disease. ClinVar contains an entry for this variant (Variation ID: 239124). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000764417 SCV000895474 uncertain significance Diarrhea 5, with tufting enteropathy, congenital; Hereditary nonpolyposis colorectal cancer type 8 2018-10-31 criteria provided, single submitter clinical testing

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