Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001002613 | SCV001160591 | uncertain significance | Polycystic kidney disease, adult type | 2019-05-19 | criteria provided, single submitter | clinical testing | The PKD1 c.7712C>T; p.Ala2571Val variant (rs756838066), to our knowledge, is not reported in the medical literature but is listed in the Mayo ADPKD database (see link). This variant is found on a single chromosome (1/239256 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. The alanine at codon 2571 is weakly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Ala2571Val variant is uncertain at this time. References: Mayo ADPKD database: http://pkdb.mayo.edu/ |