Table 1 Research findings deemed reportable by the Return of Results Committee
From: Return of genetic and genomic research findings: experience of a pediatric biorepository
Type of research test | Gene: DNA change | Variant type | Zygosity | Cardiac and genetic diagnosis | Related to primary cardiac diagnosis | Research confirmation? | Returned to? | Disclosed to patient? | Accepted Referral to clinical genetics? | Clinically confirmed? |
|---|---|---|---|---|---|---|---|---|---|---|
MLPA | SNAP29-LZTR1 | Duplication | Heterozygous | PA | N | Y | Physician | Y | Y | Y |
Single gene sequencing | ELN: c.1918 + 1G > A | Splice | Heterozygous | SVAS | Y | Y | Physician | N | N | N |
Single gene sequencing | ELN: c.862_863insG | Frameshift | Heterozygous | SVAS | Y | Y | Physician | Y | Y | Y |
Single gene sequencing | ELN: c.1785 T > A | Nonsense | Heterozygous | SVAS | Y | Y | Physician | Y | Y | Y |
Genome-wide SNP array | Chr 1 4q34-qter deletion, 3q28ter gain | Deletion, gain | Heterozygous | BAV, AS | N | Y | Physician | Y | Y | Y |
Exome sequencing | GATA4 | Deletion | Heterozygous | AVSD | Y | Y | Physician | Y | Y | Y |
Exome sequencing | EVC | Loss of copy | Heterozygous | AVSD | N | Y | Physician | N | N | N |
Genome sequencing | DSP: c.C2821T | Nonsense | Heterozygous | LVNC | Y | Y | Physician | Y | Y | Result pending |
Genome sequencing | LMNA: c.G569A | Missense | Heterozygous | DCM | Y | Y | Physician | N | N | N |
Genome sequencing | MYH7: c.G2389A | Missense | Heterozygous | HCM | Y | Y | Physician | N | N | N |
Genome sequencing | MYBPC3: c.G442A | Missense | Heterozygous | TOF | N | Y | Physician | N* | N | N |
Genome sequencing | PKP2: c.337-2A > T | Splice | Heterozygous | TOF | N | Y | Physician | Y | Y | Result pending |
Exome sequencing | NR2F2: c.A614T | Missense | Heterozygous | AVSD | Y | Y | Genetic counselor | Y | Y | Y |
Genome sequencing | FLNC: c.3791-1G > C | Splice | Heterozygous | DCM | Y | Y | Genetic counselor | Y | Y | Result Pending |
Genome sequencing | RAF1: c.T769C | Missense | Heterozygous | HCM | Y | Y | Genetic counselor | Y | Y | Y |
Genome sequencing | MYBPC3: c.G3617A | Missense | Heterozygous | TOF | N | Y | Genetic counselor | Y | Y | Result Pending |
Genome sequencing | PLN: 118795780–119,044,564 | Deletion | Single copy deletion | HCM | Y | Y | Genetic counselor | Y | N | N |
Genome sequencing | VCL: c.654dupA | Frameshift insertion | Heterozygous | TOF | Y | Y | Genetic counselor | Y | Y | Result Pending |
Genome sequencing | JAG1: c.C514T | Stop-gain | Heterozygous | TOF | Y | Y | Genetic counselor | Y | N | N |
Genome sequencing | TPM1: c.G688A | Missense | Heterozygous | CMP | Y | Y | Not communicated | N | N | N |