Submissions for variant NM_002354.3(EPCAM):c.267G>C (p.Gln89His)

dbSNP: rs146480420

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000115770	SCV000149679	likely benign	not specified	2013-12-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000589651	SCV000166490	benign	not provided	2022-07-19	criteria provided, single submitter	clinical testing
CSER _CC_NCGL, University of Washington	RCV000123185	SCV000212174	likely benign	Lynch syndrome	2015-03-11	criteria provided, single submitter	research
Genetic Services Laboratory, University of Chicago	RCV000115770	SCV000594566	benign	not specified	2021-04-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589651	SCV000697918	benign	not provided	2016-08-31	criteria provided, single submitter	clinical testing	Variant summary: The EPCAM c.267G>C (p.Gln89His) variant causes a missense change involving a non-conserved nucleotide with 2/3 in silico tools (SNPs&GO and Mutation Taster not captured here due to low reliability index and p-value, respectively) predicting a "damaging" outcome. The variant has been observed in the large, broad control population, ExAC, with an allele frequency of 313/121362 (1/387, 2 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic EPCAM variant of 1/35211, suggesting this variant is likely a benign polymorphism. Multiple clinical diagnostic laboratories cite the variant as "likely benign/benign." Therefore, the variant of interest has been classified as Benign.
CeGaT Center for Human Genetics Tuebingen	RCV000589651	SCV001152262	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	EPCAM: BP4, BS1, BS2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV000589651	SCV002010479	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000664266	SCV002535903	benign	Hereditary cancer-predisposing syndrome	2021-01-28	criteria provided, single submitter	curation
True Health Diagnostics	RCV000664266	SCV000788007	likely benign	Hereditary cancer-predisposing syndrome	2017-11-15	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004751265	SCV000806379	likely benign	EPCAM-related disorder	2024-05-31	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000589651	SCV001744695	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000589651	SCV001809068	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000589651	SCV001978124	likely benign	not provided		no assertion criteria provided	clinical testing