Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genetic Disorders, |
RCV000578150 | SCV000676915 | pathogenic | Polycystic kidney disease, adult type | 2016-12-30 | no assertion criteria provided | research | NM_001009944.2:c.11314delG variant of PKD1 gene is presented by 40 years old female individual from India. Patient has enlarged kidneys with multiple cysts of variable sizes, flank pain, loss of appetite, swelling in feet, nausea, vomiting, fever and increased creatinine level. This variant was not present in 100 control individuals. This coding region variant alters the translation frame. NM_001009944.2:c.11314delG (A3772Pfs*54) is a frameshift mutation leading to termination of protein synthesis at 3826 amino acid. MutationTaster (http://www.mutationtaster.org/) predicts this variant to cause the disease. |