ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6916-10C>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795919 SCV005418833 uncertain significance Polycystic kidney disease, adult type criteria provided, single submitter clinical testing PM2_Supporting+PP3+PS4_Supporting+PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005407351 SCV006071609 likely pathogenic PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 2025-03-14 criteria provided, single submitter clinical testing Variant summary: PKD1 c.6916-10C>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Several computational tools predict a significant impact on normal splicing: Three predict the variant weakens a 3' acceptor site. One predict the variant no significant impact on splicing. At least one publication reports experimental evidence that this variant affects mRNA splicing (Rossetti_2007). The variant was absent in 166728 control chromosomes. c.6916-10C>A has been reported in the literature in an individual affected with PKD1- Autosomal dominant Polycystic Kidney Disease (Rossetti_2007). The following publication have been ascertained in the context of this evaluation (PMID: 17582161). ClinVar contains an entry for this variant (Variation ID: 3383031). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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