ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.5809del (p.Ser1937fs) (rs1555454915)

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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 RCV000578174 SCV000676911 pathogenic Polycystic kidney disease, adult type 2017-12-30 no assertion criteria provided research NM_001009944.2:c.5809delT variant of PKD1 gene is presented by 35 years old male individual from India. Patient has enlarged kidneys with multiple cysts of variable sizes, renal stone in left kidney, hepatomegaly, increased urea and creatinine level. This variant was not present in 100 control individuals. This change is present in coding region and alters the translation frame. NM_001009944.2:c.5809delT(S1937Pfs*12) is a frameshift mutation leading to termination of protein synthesis at 1949 amino acid. Online tool MutationTaster (http://www.mutationtaster.org/) predicts the variant to be disease causing.

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