Submissions for variant NM_001009944.3(PKD1):c.2985+6_2985+52del

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV005238625	SCV005885282	uncertain significance	not specified	2025-02-24	criteria provided, single submitter	clinical testing	Variant summary: PKD1 c.2985+6_2985+52del47 alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Two predict the variant weakens a 5' donor site. Three predict the variant abolishes a cryptic 5' donor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 118480 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2985+6_2985+52del47 has been reported in the literature in at least an individual affected with autosomal dominant polycystic kidney disease (Chuan Yu_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 35778421). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as uncertain significance.