Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genetic Disorders, |
RCV000578188 | SCV000676917 | pathogenic | Polycystic kidney disease, adult type | 2016-12-30 | no assertion criteria provided | research | NM_001009944.2:c.1148C>A variant of PKD1 gene is presented by 45 years old female individual from India. Patient has enlarged kidneys with multiple cysts of variable sizes, liver cyst, flank pain. This variant was not present in 100 control individuals. NM_001009944.2:c.1148C>A (S383X) causes termination of protein synthesis at 383 amino acid. MutationTaster (http://www.mutationtaster.org/) predicts this variant to cause the disease. |