Table 1.
Summary of genetic variants
| Gene | DNA Change | Amino Acid Change | MAF | MAF Cutoff | PolyPhen‐2 | Provean | Mutation Taster | Align GVGD |
Clin Var |
Associated CM | ACMG Analysis (Criteria)a |
|---|---|---|---|---|---|---|---|---|---|---|---|
| PKP2 | c.1759G>A | V587I | 2.4e‐3 | Above | PD | N | DC | C25 | LB‐U | ARVC | LB (BS1, BP6) |
| PKP4 | c.1811A>G | D604G | 3.5e‐3 | Above | PD | D | DC | C65 | N/A | ARVC | US (BS1, PP3) |
| SYNE2 | c.19415C>T | S6472L | 2.6e‐3 | Above | PD | N | DC | C65 | LB | DCM | LB (BS1, BP6) |
| TTN | c.70492G>A | G23498S | 2.3e‐4 | Above | B | D | PM | C55 | US | DCM, ARVC, LVNC | LB (BS1, BP1) |
ARVC, arrhythmogenic right ventricular cardiomyopathy; BP, benign strong; BP, benign supporting; CM, cardiomyopathy; D, deleterious; DC, disease‐causing; DCM, dilated cardiomyopathy; LB, likely benign; LB‐U, likely benign to uncertain; LVNC, left ventricular noncompaction; MAF, minor allele frequency; MAF cutoff, variant frequency compared to MAF rare variant threshold of 1e‐4; N, neutral; PD, probably damaging; PM, polymorphism; PP, pathologic supporting; US, uncertain significance.
a
Criteria are based on 2015 American College of Medical Genetics (ACMG) guidelines.17