ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu)

gnomAD frequency: 0.00001  dbSNP: rs1183794501
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095632 SCV001251273 uncertain significance Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PP3, PP4, PP5
Ambry Genetics RCV003293874 SCV003997984 likely benign Inborn genetic diseases 2023-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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