ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp)

dbSNP: rs1555445740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518735 SCV000614468 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763370 SCV000894066 likely pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000518735 SCV001989065 uncertain significance not provided 2021-03-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 30816285, 30333007, 27835667)

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