Table 2.

Evaluation of variants reported or predicted to have strong phenotype effects

Variant (heterozygous unless otherwise noted)Predicted phenotypeAllele frequency (%)Prioritization scoreEvidence assessment in GET-EvidenceClinical importance assessment in GET-Evidence
SERPINA1-E366K/SERPINA1-E288V (compound het)Moderate α-1 antitrypsin deficiency1.2 and 3.05Well-established/well-establishedHigh/low
WFS1-C426YFamilial depression0.15UncertainModerate
FLG-S761fsPalmar hyperlinearity and keratosis pilaris (ichthyosis vulgaris in recessive manner)Unknown4UncertainModerate (for ichthyosis vulgaris)
PKD1-R4276WAutosomal dominant polycystic kidney disease0.24UncertainHigh
MYL2-A13THypertrophic cardiomyopathy0.025UncertainHigh
SCN5A-G615ELong-QT Syndrome0.034UncertainHigh
PKD2-S804NAutosomal dominant polycystic kidney disease0.35UncertainHigh
SLC9A3R1-R153QKidney stones0.34UncertainModerate
RHO-G51AAutosomal dominant retinitis pigmentosa0.24UncertainModerate
EVC-R443QEllis-van Creveld syndrome7.93Reevaluated as benignReevaluated as benign
  • Additional data regarding these variants, including PGP participant identifiers and Pubmed identifiers for related literature, are available in SI Appendix, Table S4.