Table 4 of
Al-Bdour, Mol Vis 2020; 26:445-458. Table 4 of
Al-Bdour, Mol Vis 2020; 26:445-458.
Table 4. Classification of candidate genes and their variants.
| Family No. | Gene | Variant coordinate (hg19) | RefSeq | Exon | HGVS cDNA | HGVS aa | Conse- quences | ClinVar | Segregation analysis | ACMG classi-fication | ACMG criteria | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RP affected | RP unaffected | |||||||||||
| F1 | RP1 | chr8:55537568 | NM_006269.1 | 43925 | c.1126C>T | p.Arg376Ter | Nonsense | NA | 43893 | 0/3 | Patho-genic | PVS1, PM2, PP1 |
| F1 | TTPA | chr8:63976829 | NM_000370.3 | 43926 | c.599C>T | p.Pro200Leu | Missense | NA | 43893 | 43833 | VUS | Other criteria are not met |
| F2/F3 | RP1 | chr8:55534133 | NM_006269.1 | 43865 | c.607G>A | p.Gly203Arg | Missense | LP rs786205589 | F2: 2/2 F3: 3/3 | F2: 0/3 F3: 0/2 | LP | PM2, PM3, PP1, PP3 |
| F3 | MERTK | chr2:112686733 | NM_006343.2 | 43880 | c.98C>T | p.Pro33Leu | Missense | NA | NA | NA | VUS | Other criteria are not met |
| F4 | RLBP1 | chr15:89761858 | NM_000326.4 | 43930 | c.79delA | p.Thr27Pro fsTer26 | Frameshift-deletion | Pathogenic rs1567124404 | 43925 | 0/3 | Patho-genic | PVS1, PM2, PP1 |
| F4 | IFT140 | chr16:1569962-1569967 | NM_014714.3 | 29/31 | c.3955_3960 delGCCAAG | p.Ala1319 Lys1320del | Frameshift-deletion | VUS[1]/ LP[2] rs746697405 | 43834 | 0/3 | VUS | Other criteria are not met |
| F5 | RLBP1 | chr15:89758418 | NM_000326.4 | 43991 | c.398delC | p.Pro133Gln | Frameshift-deletion | NA | 43863 | 0/1 | Patho-genic | PVS1, PM2, PP1 |