ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg)

gnomAD frequency: 0.00004  dbSNP: rs1412045164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001004200 SCV001163040 likely pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
GeneDx RCV001786423 SCV002028864 likely pathogenic not provided 2023-01-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12925574, 16523049, 16133180, 11919560)
Baylor Genetics RCV003467571 SCV004204544 likely pathogenic Polycystic kidney disease 4 2023-09-14 criteria provided, single submitter clinical testing

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