ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser)

gnomAD frequency: 0.00003  dbSNP: rs587780769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539792 SCV000166498 uncertain significance not provided 2016-11-18 criteria provided, single submitter clinical testing This variant is present in population databases (rs587780769, ExAC 0.006%) but has not been reported in the literature in individuals with a EPCAM-related disease. ClinVar contains an entry for this variant (Variation ID: 136026). In summary, this is a rare missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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. This sequence change replaces threonine with serine at codon 192 of the EPCAM protein (p.Thr192Ser). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and serine.
Fulgent Genetics, Fulgent Genetics RCV002498585 SCV002813386 uncertain significance Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 2021-10-27 criteria provided, single submitter clinical testing

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