ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7925_7926del (p.Ile2642fs) (rs1555452400)

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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 RCV000664259 SCV000676912 pathogenic Polycystic kidney disease, adult type 2017-12-30 no assertion criteria provided research NM_001009944:c.7925_7926delTA change in PKD1 is associated with polycystic kidney disease (OMIM# 173900) in an Indian family. Females and males were equally affected. This variation was not present in the unaffected family members and 100 control individuals. This change is a frame-shift mutation leading to termination of protein synthesis at 2660th amino acid (I2642Tfs*18). MutationTaster ( predicts the variant to cause the disease.

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