Table 2.
CDH1 variants identified and pathologic significance.
| SNP ID | Sequence Variant | Protein Change | Probands (n) | Location | Class | Significance α |
|---|---|---|---|---|---|---|
| rs16260 | c.-285C>A | 19 | Promoter | Promoter | Non-coding | |
| rs28372783 | c.-197A>C | 11 | Promoter | Promoter | Non-coding | |
| rs3743674 | c.48+6C>T | 36 | Intron 1 | Splice site | Benign | |
| rs139866691 | c.88C>A | p.Pro30Thr | 1 | Exon 2 | Missense | Benign |
| rs33963999 | c.531+10G>C | 1 | Intron 4 | Splice site | Benign | |
| rs61756284 | c.1272A>T | p.Thr424Thr | 1 | Exon 9 | Synonymous | Benign |
| rs1131690810 | c.1531C>T | p.Gln511 * | 1 | Exon 10 | Nonsense | Pathogenic |
| rs786201452 | c.1893A>T | p.Thr631Thr | 1 | Exon 12 | Synonymous | Likely benign |
| rs764379691 | c.2052C>T | p.Ser684Ser | 1 | Exon 13 | Synonymous | Likely benign |
| rs1801552 | c.2076T>C | p.Ala692Ala | 30 | Exon 13 | Synonymous | Benign |
| rs33964119 | c.2253C>T | p.Asn751Asn | 4 | Exon 14 | Synonymous | Benign |
α Significance according to ClinVar [20]. * Incomplete protein.