ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)

gnomAD frequency: 0.00001  dbSNP: rs587780765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002274917 SCV002563564 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing EPCAM: BP1, BP4
Ambry Genetics RCV002321607 SCV002609128 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-05 criteria provided, single submitter clinical testing The p.A107T variant (also known as c.319G>A), located in coding exon 3 of the EPCAM gene, results from a G to A substitution at nucleotide position 319. The alanine at codon 107 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000123187 SCV000166492 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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