Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599359 | SCV000710232 | uncertain significance | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | The c.600_601delGCinsTT variant in the COL18A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.600_601delGCinsTT variant causes an in-frame substitution of two amino acids, Arginine 200 and Proline 201, with two Serine residues, denoted p.Arg200_Pro201delinsSerSer. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The c.600_601delGCinsTT variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.600_601delGCinsTT as a variant of uncertain significance. |
Invitae | RCV000599359 | SCV002380986 | likely benign | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing |