ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser)

gnomAD frequency: 0.00002  dbSNP: rs587780766
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002336271 SCV002636189 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-22 criteria provided, single submitter clinical testing The c.466C>T (p.P156S) alteration is located in exon 4 (coding exon 4) of the EPCAM gene. This alteration results from a C to T substitution at nucleotide position 466, causing the proline (P) at amino acid position 156 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002483235 SCV002775966 uncertain significance Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 2022-05-12 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004791273 SCV005411705 uncertain significance not provided 2024-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000123189 SCV000166494 uncertain significance Lynch syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines.

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