ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7303_7317del (p.Arg2435_Arg2439del)

dbSNP: rs2092343570
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001095560 SCV001251191 likely pathogenic Polycystic kidney disease, adult type 2020-02-05 criteria provided, single submitter research PM2, PM4, PP3, PP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408693 SCV006071976 likely pathogenic PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 2025-03-21 criteria provided, single submitter clinical testing Variant summary: PKD1 c.7303_7317del15 (p.Arg2435_Arg2439del) results in an in-frame deletion that is predicted to remove 5 amino acids from the encoded protein. The variant was absent in 226388 control chromosomes. c.7303_7317del15 has been reported in the heterozygous state in the literature in multiple individuals affected with autosomal dominant polycystic kidney disease (example, Elhassan_ 2024, Lindemann_ 2023, Benson_ 2021, Rossetti_ 2007, Audrezet_ 2012). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 33454723, 38481516, 36938073, 17582161, 22508176). ClinVar contains an entry for this variant (Variation ID: 873340). Based on the evidence outlined above, the variant was classified as likely pathogenic.

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