ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7391G>C (p.Arg2464Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997602 SCV005621409 uncertain significance not provided 2023-11-06 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease. Computational tools disagree on the variant's effect on normal protein function. The variant is located in a region that is considered important for protein function and/or structure.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005365364 SCV005919611 uncertain significance Polycystic kidney disease, adult type 2023-04-05 criteria provided, single submitter clinical testing

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