ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)

gnomAD frequency: 0.00001  dbSNP: rs778641299
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780223 SCV000917317 uncertain significance not specified 2017-10-12 criteria provided, single submitter clinical testing Variant summary: The EPCAM c.11C>T (p.Pro4Leu) variant involves the alteration of a non-conserved nucleotide. 4/5 in silico tools predict a benign outcome for this variant. This variant was found in 1/164140 control chromosomes at a frequency of 0.0000061, which does not exceed the estimated maximal expected allele frequency of a pathogenic EPCAM variant (0.0000284). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Fulgent Genetics, Fulgent Genetics RCV002493425 SCV002787828 uncertain significance Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 2021-11-24 criteria provided, single submitter clinical testing

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