Table 2.
Summary of variants detected in 22 unsolved cases with NVI
| Phenotype | Responsible variant | VUS and others | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Family ID | Patient ID | Case ID | VHL type | PCC | CNS HGB | Retina HGB | RCC (histology) | Other features | Family history | ||
| 12 | 32 | 1 | 1 | − | + | − | + (NA) | PNET, bilateral adrenal tumors | − | − | − |
| 26 | 85 | 2 | 1 | − | + | − | + (NA) | renal cyst, lung meningioma | mother:RCC | − | − |
| 48 | 137 | 3 | 1 | − | + | − | + (NA) | colon cancer | − | − | − |
| 85 | 237 | 4 | 1 | − | + | − | + (ccRCC) | gastric cancer, mesothelioma | father, sisrer, niece:gastric cancer | BAP1 splicing c.67 + 2 T > C | − |
| 87 | 242 | 5 | 1 | − | + | − | + (NA) | − | − | − | TSC1 p.T778S |
| B-10 | 269 | 6 | 1 | − | + | − | + (ccRCC) | pancreatic lesion | − | VHL p.Leu169Pro mosaicism:AF8% | FLCN p.G299E |
| 107 | 308 | 7 | 1 | − | + | − | + (NA) | − | − | − | − |
| 122 | 346 | 8 | 1 | − | + | − | + (ccRCC) | renal cyst | daughter:CNS HGB | − | TSC1 SV |
| 126 | 355 | 9 | 1 | − | − | + | + (NA) | renal cyst | mother:lung cancer, uncle:gastric cancer | − | TSC2 p.S802G, SDHD p.V72I |
| 137 | 390 | 10 | 1 | − | + | − | + (NA) | − | − | − | − |
| 140 | 399 | 11 | 2B | − | − | − | + (NA) | renal cyst | father:PCC, RCC | SDHB: exon5:c.424_427del:p.D142fs | − |
| 154 | 437 | 12 | 1 | − | + | − | + (ccRCC) | − | − | − | − |
| 155 | 439 | 13 | 2B | + | + | − | + (ccRCC) | renal cyst | − | − | − |
| 3 | 3 | 14 | 1 | − | + | + | − | − | − | − | − |
| 10 | 27 | 15 | 2B | + | + | + | + (NA) | pancreatic cyst | − | VHL p.Arg161X mosaicism: AF 21% | − |
| 16 | 53 | 16 | 1 | − | + | − | − | renal cyst, erythrocytosis, multiple liver cysts | − | − | − |
| 20 | 70 | 17 | 1 | − | + | − | − | renal cyst | − | − | − |
| 32 | 104 | 18 | 2A | + | + | − | − | renal cyst | − | VHL p.Arg167Trp mosaicism: AF 2.5% | − |
| 60 | 174 | 19 | 1 | − | + | − | − | renal cyst | − | − | − |
| 90 | 248 | 20 | 1 | − | + | + | − | epididymal cystadenoma | − | − | SDHB p.S163F |
| 99 | 279 | 21 | 2A | + | − | − | − | paraganglioma, pancreatic lesion, erythrocytosis | − | − | − |
| 152 | 432 | 22 | 1 | − | + | − | − | − | mother:CNS HGB, Retina HGB, Renal cyst | ME insertion in VHL intron 1 | SDHA p.T338I, MET p.N1131I |