Table 2.
Classification of LMNA variants identified.
| LMNA Variant (NM_170707) | ClinVar | ACMG Classification | DANNScore | GERP | GnomAd (Allele Frequency) |
|---|---|---|---|---|---|
| E161K | Pathogenic | Likely pathogenic | 0.9992 | 5.59 | / |
| R189W | Uncertain significance | Likely pathogenic | 0.9956 | 5.44 | 0.0000159 |
| R189Q | Uncertain significance | Likely pathogenic | 0.998 | 5.44 | 0.0000318 |
| R216H | Uncertain significance | Likely pathogenic | 0.9995 | 5.2699 | 0.0000239 |
| T224I | / | Likely pathogenic | 0.9978 | 5.2699 | / |
| R225X | Pathogenic | Pathogenic | 0.9974 | 5.2699 | / |
| E317K | Likely pathogenic | Pathogenic | 0.9992 | 5.67 | 0.0000319 |
| R331L | / | Likely pathogenic | 09987 | 5.67 | / |
| G382= | Likely pathogenic/Pathogenic | Likely Pathogenic | 0.7586 | 5.3 | / |
| c.1381-5G > A | Uncertain significance | Uncertain significance | 0.7824 | 5.21 | 0.0000482 |
| W467X | Pathogenic | Pathogenic | 0.9935 | 5.13 | / |