ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9331T>A (p.Phe3111Ile)

dbSNP: rs767845814
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Nephrology, Qingdao Municipal Hospital RCV002251312 SCV002520701 uncertain significance Polycystic kidney disease, adult type 2021-10-15 no assertion criteria provided clinical testing This variant was found in a male patient with BBS5 syndrome. This patient presented end stage kidney disease, and CT imaging showed severe atrophy and nephrocystosis of bilateral kidney. However, his mother harboring the same heterozygous variant showed normal renal function and normal CT imaging.

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