Individual
|
cDNA
|
Protein
|
De novo
|
GnomAD
|
ACMG scoring
|
Pathogenicity
|
---|
Patient 1
|
c.970G>A
|
p.G324S
|
Yes
|
Not reported
|
PS2 + PM1 + PM2 + PP3
|
Likely path
|
1
|
c.970G>A
|
p.G324S
|
No
|
Not reported
|
PM1 + PM2 + PP3
|
VUS
|
Patient 2
|
c.889G>A
|
p.A297T
|
Yes
|
Not reported
|
PS2 + PM1 + PM2 + PP3
|
Likely path
|
1
|
c.889G>A
|
p.A297T
|
No
|
Not reported
|
PM1 + PM2 + PP3
|
VUS
|
2
|
c.889G>A
|
p.A297T
|
No
|
Not reported
|
PM1 + PM2 + PP3
|
VUS
|
3
|
c.889G>A
|
p.A297T
|
No
|
Not reported
|
PM1 + PM2 + PP3
|
VUS
|
4
|
c.889G>A
|
p.A297T
|
No
|
Not reported
|
PM1 + PM2 + PP3
|
VUS
|
- de novo parents available to confirm de novo status, likely path likely pathogenic, VUS variants of uncertain significance. Each pathogenic criterion is weighted as very strong (PVS), strong (PS); moderate (PM), or supporting (PP)