ClinVar Miner

Submissions for variant NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)

gnomAD frequency: 0.00006  dbSNP: rs147494515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539823 SCV000287349 uncertain significance not provided 2018-05-07 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EPCAM-related disease. ClinVar contains an entry for this variant (Variation ID: 239124). This variant is present in population databases (rs147494515, ExAC 0.06%). This sequence change replaces serine with leucine at codon 60 of the EPCAM protein (p.Ser60Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine.
Fulgent Genetics, Fulgent Genetics RCV000764417 SCV000895474 uncertain significance Congenital diarrhea 5 with tufting enteropathy; Lynch syndrome 8 2018-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002408966 SCV002716917 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-02 criteria provided, single submitter clinical testing The c.179C>T (p.S60L) alteration is located in exon 2 (coding exon 2) of the EPCAM gene. This alteration results from a C to T substitution at nucleotide position 179, causing the serine (S) at amino acid position 60 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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