Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188300 | SCV000241911 | uncertain significance | not provided | 2017-12-14 | criteria provided, single submitter | clinical testing | The His1221Arg missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Arg292His in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. This amino acid substitution is conservative, as Histidine and Arginine are both positively charged amino acids. It alters a highly conserved position in the sixth laminin G-like domain of the protein, and multiple in silico algorithms predict His1221Arg may be damaging to protein structure/function. Therefore, based on the currently available information, it is unclear whether His1221Arg is a disease-causing mutation or a rare benignvariant. The variant is found in EPILEPSY panel(s). |
Fulgent Genetics, |
RCV000764439 | SCV000895496 | uncertain significance | Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome | 2018-10-31 | criteria provided, single submitter | clinical testing |