Table 2.
Prioritized non-benign variants in the patient sample.
| ID | Gene | Variant | Depth | dbSNP | Polyphen | ClinVar | ExAC allele |
|---|---|---|---|---|---|---|---|
| 604 | COL3A1 | G324S | 135/164 | unknown | 0.991 (prob. damaging) | Pathogenic | Not found |
| FBN1 | G343R | 77 | rs146726731 | 1.000 (prob. damaging) | Conflicting | 13/66,698 | |
| 2149 | FBN1 | R2554W | 56/93 | rs369294972 | 9.975 (prob. damaging) | Uncertain | 2/63,584 |
| 2953 | COL4A1 | P116L | 71/75 | rs538816765 | 0.977 (prob. damaging) | No items found | 1/66,704 |
| 2904 | TGFBR2 | A292T | 150/161 | Unknown | 1.000 (prob. damaging) | No items found | Not found |
Depth: coverage for both affected relatives or (in case of the FBN G343R variant) for a single patient; polyphen: polyphen-2 probability score (and assigned classification); prob. damaging: probably damaging; ClinVar: classification of the variant according to the ClinVar database; conflicting: Conflicting interpretations of pathogenicity; uncertain: uncertain significance; ExAC allele frequency: observed allele frequency in the non-Finnish European populations of the ExAC database.