ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10487del (p.Leu3496fs) (rs1555448106)

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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 RCV000578128 SCV000676914 pathogenic Polycystic kidney disease, adult type 2017-12-30 no assertion criteria provided research NM_001009944.2:c.10487delT variant of PKD1 gene is presented by 52 years old male individual having positive family history of disease from India. Patient has enlarged kidneys with multiple cysts of variable sizes, hypertension, liver cysts, flank pain, loss of appetite, pain in knees, fever, frequent urination, weakness, vomiting, chronic renal failure, cyst hemorrhage, increased urea and creatinine level. This variant is not present in 100 control individuals. This change is present in coding region and alters the translation frame. NM_001009944.2:c.10487delT (L3496Rfs*31) is a frameshift mutation leading to termination of protein synthesis at 3527 amino acid. Online tool MutationTaster (http://www.mutationtaster.org/) predicts it to be disease causing.

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