Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000658158 | SCV000779929 | uncertain significance | not provided | 2018-05-16 | criteria provided, single submitter | clinical testing | The P1227S variant of uncertain significance in the COL11A2 gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 1/15,304 (0.007%) African alleles in large population cohorts (Lek et al., 2016). The P1227S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Moreover, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign. |
Invitae | RCV000658158 | SCV002316263 | likely benign | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing |