Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002475 | SCV001160423 | uncertain significance | Polycystic kidney disease, adult type | 2019-03-22 | criteria provided, single submitter | clinical testing | The PKD1 c.2930T>A; p.Phe977Tyr 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. The phenylalanine at codon 977 is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Given the lack of clinical and functional data, the significance of the p.Phe977Tyr variant is uncertain at this time. |