Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002387 | SCV001160305 | likely pathogenic | Retinitis pigmentosa 38 | 2019-03-04 | criteria provided, single submitter | clinical testing | The MERTK c.1450+2T>G variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice donor site of intron 9, which is likely to disrupt gene function. Based on available information, this variant is considered to be likely pathogenic. |