ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12499del (p.Arg4167fs) (rs1555444249)

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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 RCV000577981 SCV000676916 pathogenic Polycystic kidney disease, adult type 2016-12-30 no assertion criteria provided research NM_001009944.2:c.12499delA variant of PKD1 gene is presented by affected members of one family from India. Proband have enlarged kidneys with multiple cysts of variable sizes, hypertension, liver cysts, cyst in prostate, cardiac valve defect, lank pain, loss of appetite, swelling in lower body, frequent urination, general body weakness, increased urea and creatinine level. This variant was inherited by offspring and was not present in 100 control individuals. This change is present in coding region and alters the translation frame. NM_001009944.2:c.12499delA (R4167Gfs*31) is a frameshift mutation leading to termination of protein synthesis at 4198 amino acid. MutationTaster ( predicts it to be disease causing.

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