Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000757442 | SCV000885667 | uncertain significance | not provided | 2018-05-11 | criteria provided, single submitter | clinical testing | The LRPPRC c.-4A>G variant, to our knowledge, is not reported in the medical literature or gene specific variation databases. This variant is also absent from the general population databases (1000 Genomes Project, Exome Variant Server, Genome Aggregation Database), indicating that it is not a common polymorphism. Although the nucleotide at this position is weakly conserved, it does reside in a region that is involved in regulating translation. Therefore, based on the available information, the clinical significance of the c.-4A>G variant cannot be determined with certainty. |