Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002322 | SCV001160215 | uncertain significance | Polycystic kidney disease, adult type | 2019-01-06 | criteria provided, single submitter | clinical testing | The PKD1 c.6313A>G; p.Thr2105Ala variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is only observed on one allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The threonine at codon 2105 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Thr2105Ala variant is uncertain at this time. |