ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8998dup (p.Arg3000fs) (rs1555450475)

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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 RCV000578037 SCV000676913 pathogenic Polycystic kidney disease, adult type 2017-12-30 no assertion criteria provided research NM_001009944.2:c.8998dupC variant of PKD1 gene is presented by 55 years old female individual from India. Patient has enlarged kidneys with multiple cysts of variable sizes, 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.8998dupC (R3000Pfs*69) is a frameshift mutation leading to the termination of protein synthesis at 3069 amino acid. MutationTaster (http://www.mutationtaster.org/) predicts this variant to be disease causing.

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