ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7207G>A (p.Gly2403Arg)

gnomAD frequency: 0.00001  dbSNP: rs1404441554
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441451 SCV004167872 uncertain significance not provided 2023-04-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Observed with a pathogenic variant on the opposite allele (in trans) in a patient referred for genetic testing at GeneDx; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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