ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6421G>T (p.Val2141Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004781037 SCV005392129 uncertain significance not provided 2024-04-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 36833371)
Fulgent Genetics, Fulgent Genetics RCV005017273 SCV005641309 likely pathogenic Polycystic kidney disease, adult type 2024-03-11 criteria provided, single submitter clinical testing

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