Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000490106 | SCV000577254 | likely pathogenic | not provided | 2017-04-06 | criteria provided, single submitter | clinical testing | The r.148 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Population data is not available for this variant, as the ExAC data set has low coverage for this position (Lek et al., 2016). This substitution occurs at a position that is conserved across species. Nearby variants (r.147 G>C, r.147 G>A) as well as the complementary position of the same Watson-Crick base pair (r.169 G>A) have been reported in the Human Gene Mutation Database in association with Cartilage-Hair Hypoplasia (Stenson et al., 2014), supporting the functional importance of this region of the gene. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Counsyl | RCV000670275 | SCV000795109 | uncertain significance | Metaphyseal chondrodysplasia, McKusick type | 2017-10-27 | no assertion criteria provided | clinical testing |