Submissions for variant NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)

gnomAD frequency: 0.00016  dbSNP: rs555329870

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	RCV000761123	SCV000891039	likely benign	Lynch syndrome 8	2021-01-06	criteria provided, single submitter	clinical testing	The EPCAM c.93C>G (p.Asn31Lys) missense change has a maximum subpopulation frequency of 0.22% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/variant/2-47600618-C-G). This population frequency is higher than expected for a pathogenic variant in EPCAM causing Lynch syndrome (BS1). The EPCAM gene variants involved in Lynch syndrome are typically deletions that signal the end of the gene. Six of seven in silico tools predict a benign effect on the gene or protein function (BP4). To our knowledge, 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 likely benign based on the ACMG/AMP criteria: BS1, BP4.
Labcorp Genetics (formerly Invitae), Labcorp	RCV005055664	SCV001635026	likely benign	not provided	2016-11-13	criteria provided, single submitter	clinical testing
Ding PR Lab, Sun Yat-sen University Cancer Center	RCV001093678	SCV001250859	uncertain significance	Lynch syndrome 1		no assertion criteria provided	clinical testing