ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1148C>A (p.Ser383Ter) (rs1286585831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genetic Disorders, Banaras Hindu University 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.

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