Table 1.
Candidate variants identified in four inherited retinal dystrophy pedigrees by exome sequencing
| Family Number | Gene |
Variant Coordinate (hg19) |
Transcript (Ensembl) |
dbSNP ID | Variation |
Total MAF (Gnomad) |
ClinVar | Classification of variantsa | Associated phenotype | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HGVS cDNA | HGVS aa | Type | Zygosity | |||||||||
| 1‐A & 4 | ABCA4 | chr1:94480098 | ENST00000370225.3 | rs61753030 | c.5460+1G>A | NA | Splice donor | Hom | 0.00003185 | Pathogenic | Pathogenic | RP in F1‐A and CRD in F4 |
| 1‐B | CLRN1 | chr3:150659368 | ENST00000327047.5 | rs201205811 | c.433+1G>A | NA | Splice donor | Hom | 0.000007970 | NA | Pathogenic | Usher syndrome type III |
| 2 | CLRN1 | chr3:150659479 | ENST00000327047.5 | NA | c.323T>C | p.Leu108Pro | Missense | Hom | NA | NA | Uncertain Significance | Usher syndrome type III |
| 3 | ABCA4 | chr1:94528780 | ENST00000370225.3 | rs61748558 | c.1648G>A | p.Gly550Arg | Missense | Hom | 0.000003977 | Likely Pathogenic | LikelyPathogenic | CRD |
Novel variants are highlighted in bold. Abbreviations: CRD, cone‐rod dystrophy; Hom, homozygous; MAF, minor allele frequency; NA, not available; RP, retinitis pigmentosa.
a
Classification is based on the ACMG guidelines for interpretation of sequence variants (See the text).