Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001001345 | SCV001158539 | uncertain significance | Polycystic kidney disease, adult type | 2019-06-07 | criteria provided, single submitter | clinical testing | The PKD1 c.12070C>T; p.Pro4024Ser variant (rs771494407), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on two chromosomes (2/246798 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The proline at codon 4024 is moderately conserved, and computational analyses (SIFT: tolerated, PolyPhen-2: damaging) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Pro4024Ser variant is uncertain at this time. |