Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000190576 | SCV000245596 | likely pathogenic | Hypercalcemia, infantile, 1 | 2014-12-18 | criteria provided, single submitter | clinical testing | The p.Gln347X variant in CYP24A1 has not been previously reported in individuals with disease. It has been identified in 1/67868 Eurpoean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). This nonsense variant leads to a premature termination codon at position 347 which is predicted to lead to a truncated or absent protein. Loss-of-function variants in the CYP24A1 gene have been shown to cause autosomal recessive infantile hypercalcemia. In summary, although additional studies are required to fully establish its clinical significance, the p.Gln347X variant in CYP24A1 is likely pathogenic. |
Molecular Diagnostics Lab, |
RCV000785820 | SCV000924392 | pathogenic | not provided | 2015-03-13 | criteria provided, single submitter | clinical testing |