ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3903_3926del (p.Ala1302_Pro1309del)

dbSNP: rs2544826659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003402452 SCV004110678 uncertain significance PKD1-related disorder 2023-02-06 criteria provided, single submitter clinical testing The PKD1 c.3903_3926del24 variant is predicted to result in an in-frame deletion (p.Ala1302_Pro1309del). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Of note, small in-frame deletions in PKD1 were commonly reported to be pathogenic for autosomal dominant polycystic kidney disease (ADPKD)(Human Gene Mutation Database; https://pkdb.mayo.edu/). Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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