Table 2.
Characteristics of RMND1 variants detected in this study.
| Variant cDNA Level | Variant Protein Level | Reference SNP ID | Population Frequencies | Pathogenicity Predictions | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| gnomAD | 1000 Genomes | ESP 6500 | SIFT | PolyPhen-2 | Mutation Taster | LRT | CADD | ACMG Classification * | |||
| c.583G>A | p.(Gly195Arg) | rs776083030 | 0.00002388 (6/251308) | 0 | 0 | D (0.011) | PD (0.997) | D (1) | D (0) | D (29.7) | LP (PM2, PP1_M, PP3, PP4) |
| c.818A>C | p.(Tyr273Ser) | rs766739125 | 0.00000399 (1/250612) | 0 | 0 | D (0) | PD (1) | D (0.99) | N (0.001742) | D (26.4) | LP (PM2, PP1_M, PP3, PP4) |
Abbreviations: D, damaging; PD, probably damaging; N, neutral; * ACMG classification criteria legend: LP, likely pathogenic; PM, moderate pathogenicity evidence; PP, supporting pathogenicity evidence; _M, moderate.