ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)

dbSNP: rs1582024305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987719 SCV001137151 pathogenic Autosomal recessive polycystic kidney disease 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV004702555 SCV005201634 uncertain significance not provided 2023-07-31 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: 15805161)

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