Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144743 | SCV000190953 | pathogenic | not provided | 2013-05-03 | criteria provided, single submitter | clinical testing | The Pro138Leu missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although Proline and Leucine are both uncharged, non-polar amino acids, the loss of a bulky Proline residue may affect the secondary structure of the protein. It alters a highly conserved position in the S/T kinase active site in the catalytic domain of the protein (Kilstrup-Nielsen et al., 2012), and multiple in silico algorithms predict Pro138Leu may be damaging to protein structure/function. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s). |
Ce |
RCV000144743 | SCV001962608 | pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing |