ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10348G>T (p.Glu3450Ter) (rs780009030)

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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 RCV000578152 SCV000676918 pathogenic Polycystic kidney disease, adult type 2016-12-30 no assertion criteria provided research NM_001009944.2:c.10348G>T variant of PKD1 gene is presented by 52 years old female individual having positive family history of disease from India. Patient has enlarged kidneys with multiple cysts of variable sizes, liver cysts, gall bladder stone, flank pain, increased urea and creatinine level. This variant was not present in 100 control individuals. NM_001009944.2:c.10348G>T (E3450X) causes termination of protein synthesis at 3450 amino acid. MutationTaster ( predicts this variant to cause the disease.

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