ClinVar Miner

Submissions for variant NM_001009944.3:c.8914_(8948+1_8949-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005408356 SCV006071313 likely pathogenic PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease 2025-03-26 criteria provided, single submitter clinical testing Variant summary: PKD1 c.8914_(8948+1_8949-1)del involves the deletion of the C-terminal part of exon 24, spanning a canonical splice-site. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing and loss of PKD1 function. The variant was absent in 120764 control chromosomes in the gnomAD database (Structural Variants v4.1 dataset). To our knowledge, no occurrence of c.8914_(8948+1_8949-1)del in individuals affected with PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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