ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)

dbSNP: rs2103738227
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Total submissions: 2
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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 RCV002254857 SCV002526017 uncertain significance Lynch syndrome 8 2022-03-24 criteria provided, single submitter clinical testing The EPCAM c.64G>A (p.Ala22Thr) missense variant is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/ ). Seven of seven in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with Lynch syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4.
Ambry Genetics RCV003164362 SCV003861491 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-04 criteria provided, single submitter clinical testing The p.A22T variant (also known as c.64G>A), located in coding exon 1 of the EPCAM gene, results from a G to A substitution at nucleotide position 64. The alanine at codon 22 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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