Table 1.
Potential Pathogenic Variants in MAB21L1 Identified in This Study
| Position | NM_005584.4 | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| No. | chr 13 | Ref | Alt | Change | Effect | Family Count | ACMG Rank | ACMG Evidence | REVEL | CADD | SIFT | Polyphen-2 | PROVEAN | HGMD | Reference |
| 1 | 36050124 | C | A | c.152G>T | p.Arg51Leu | 2 | P | PS1+PS2+PS3+PM1+PM2+PP1+PP3+PP4 | 0.682 | 32 | D (0) | D (0.999) | D (−5.36) | DM | 18 , 23 |
| 2 | 36050124 | C | T | c.152G>A | p.Arg51Gln | 2 | P | PS2+PM1+PM2+PM5 +PP1+PP3+PP4 |
0.542 | 32 | D (0) | D (0.999) | D (−2.96) | / | 23 |
| 3 | 36050121 | A | C | c.155T>G | p.Phe52Cys | 1 | LP | PM1+PM2+PP1+PP3 +PP4 |
0.745 | 32 | D (0) | D (0.969) | D (−6.1) | / | 23 |
Ref, reference; Alt, alteration; P, pathogenic; LP, likely pathogenic; D, damaging; N, neutral; HGMD, human genome mutation database; DM, disease-causing mutation; “/” indicates no case reported.