Research Article
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework
Table 4
Using ClinVar to analysis frameshift mutation.
| | Genome AD | Chr | dbSNP | Gene | Variant | Functional study | Criterion |
| | — | — | — | ALG13 | c.383+2821_383+2822delinsTT | — | — | | — | Chr2:219418955-219418982 | rs1114167332 | DES | c.493_520del28insGCGT | — | Pathogenic | | — | — | — | DSC2 | c.2688_2688delinsGAA | — | — | | — | — | — | EXT2 | c.1101_1102delAG (E368Kfs18) | — | — | | — | Chr1:156130627-156130629 | rs794728597 | LMNA | c.367_369delAAG | Pathogenic | Likely pathogenic | | — | — | — | LMNA | c.364_366AAG | — | — | | — | — | — | LMNA | c.103-105del CTG | — | — | | | | | LMNA | 815_818delinsCCAGAC | | | | — | — | — | MYL4 | c.234delC | — | — | | — | Chr5:173232761 | rs587784067 | NKX2.5 | c.959delC | — | Conflicting interpretations of pathogenicity | | — | — | — | SCN5A | c.2401_2409delinsTCC | — | Uncertain significant | | — | — | — | SCN5A | c.5355_5354delCT | — | Uncertain significant | | — | — | — | SCN5A | c.5368 GNA | — | — | | — | — | — | SCN5A | c.3142_3153de-l12ins11 | — | — | | | | | MYH6 | delE933 | | | | | | | MYL4 | c.234delC | | |
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