ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.658-6A>G

gnomAD frequency: 0.00003  dbSNP: rs768723264
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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 RCV005090169 SCV001488972 uncertain significance not provided 2016-01-29 criteria provided, single submitter clinical testing This variant is present in population databases (rs768723264, ExAC 0.01%) but has not been reported in the literature in individuals with a EPCAM-related disease. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. This sequence change falls in intron 6 of the EPCAM mRNA. It does not directly change the encoded amino acid sequence of the EPCAM protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228632 SCV000287363 uncertain significance Lynch syndrome 2016-01-29 flagged submission clinical testing This sequence change falls in intron 6 of the EPCAM mRNA. It does not directly change the encoded amino acid sequence of the EPCAM protein. This variant is present in population databases (rs768723264, ExAC 0.01%) but has not been reported in the literature in individuals with a EPCAM-related disease. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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