ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu)

gnomAD frequency: 0.00002  dbSNP: rs769345341
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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 RCV000517412 SCV000614547 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing
GeneDx RCV001755768 SCV001985759 uncertain significance not provided 2020-10-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with polycystic kidney disease in the published literature who also harbored two additional variants in the PKD1 gene, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (Carrera et al., 2016); This variant is associated with the following publications: (PMID: 27499327)
Fulgent Genetics, Fulgent Genetics RCV002481682 SCV002793519 uncertain significance Polycystic kidney disease, adult type 2021-11-02 criteria provided, single submitter clinical testing

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