ClinVar Miner

Submissions for variant NM_002354.2(EPCAM):c.577A>G (p.Ile193Val) (rs200676965)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524490 SCV000166499 uncertain significance Hereditary nonpolyposis colon cancer 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 193 of the EPCAM protein (p.Ile193Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs200676965, ExAC 0.02%). This variant has not been reported in the literature in individuals with a EPCAM-related disease. ClinVar contains an entry for this variant (Variation ID: 136027). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on EPCAM function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Illumina Clinical Services Laboratory,Illumina RCV000123194 SCV000430885 uncertain significance Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679445 SCV000806393 uncertain significance not provided 2017-08-23 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764418 SCV000895475 uncertain significance Diarrhea 5, with tufting enteropathy, congenital; Hereditary nonpolyposis colorectal cancer type 8 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679445 SCV001152267 uncertain significance not provided 2018-12-01 criteria provided, single submitter clinical testing

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