ClinVar Miner

Submissions for variant NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly)

dbSNP: rs1727651995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249098 SCV001422381 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001249098 SCV004169258 uncertain significance not provided 2023-05-09 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: 35314260, 27991905, 37028763, 27071085, 28154010, 29973168, 33437033, 33102977, 14993477)

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