Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000696 | SCV001157735 | uncertain significance | Polycystic kidney disease, adult type | 2018-07-03 | criteria provided, single submitter | clinical testing | The PKD1 c.2105T>G; p.Leu702Arg variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 702 is weakly conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) are inconclusive on the effects of this variant on protein structure/function. Due to lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. |