ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095622 SCV001251259 uncertain significance Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PP3, PP4, PP5
CeGaT Praxis fuer Humangenetik Tuebingen RCV001172091 SCV001335034 pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001172091 SCV001475263 likely pathogenic not provided 2019-12-09 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. Found in multiple individuals with expected phenotype for this gene. Occurs in a single case with an alternate molecular basis for disease. One de novo case with parental identity not confirmed.
GeneDx RCV001172091 SCV001794327 uncertain significance not provided 2020-05-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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: 31056860, 31740684, 29338003, 22508176, 22383692, 23431072, 21115670)

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