ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del)

dbSNP: rs1424757619
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV001775455 SCV002012386 uncertain significance Lynch syndrome 8 2021-09-09 criteria provided, single submitter clinical testing The EPCAM c.852_854del (p.Val285del) change has a maximum subpopulation frequency of 0.0033% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-47607097-ATTG-A). The change results in the deletion of a single serine residue in a region without a known function at the c-terminal end of the gene (BP3). To our knowledge, functional studies have not been performed and this variant has not been reported in individuals with Lynch syndrome or constitutional mismatch repair deficiency. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: BP3.

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