ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796445 SCV005418914 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PM4+PP1+PP4+PS4_Supporting
Fulgent Genetics, Fulgent Genetics RCV004796445 SCV005639036 likely pathogenic Polycystic kidney disease, adult type 2024-03-26 criteria provided, single submitter clinical testing
GeneDx RCV005241573 SCV005889459 likely pathogenic not provided 2024-09-13 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on channel activity (PMID: 29931260); In-frame deletion of one amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 37023534, 32305667, 29931260, 10647901)

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