Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189691 | SCV000243338 | uncertain significance | not provided | 2016-05-25 | criteria provided, single submitter | clinical testing | p.Phe272Leu (TTC>TTA): c.816 C>A in exon 2 of the TBC1D24 gene (NM_020705.2). The Phe272Leu 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 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a conservative substitution, as Phenylalanine and Leucine are both uncharged, non-polar amino acids. However, it alters a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether Phe272Leu is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s). |