Submissions for variant NM_001009944.3(PKD1):c.9201+3G>C

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV004781052	SCV005392149	uncertain significance	not provided	2024-04-12	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Molecular Genetics, Royal Melbourne Hospital	RCV005250370	SCV005900437	uncertain significance	Autosomal dominant polycystic kidney disease	2024-05-02	criteria provided, single submitter	clinical testing	This sequence change in PKD1 is an intronic variant located in intron 24. This variant is absent from the population database gnomAD v4.0. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. The results from an in silico splicing predictor (SpliceAI) indicate that this variant may impact splicing by disrupting the donor splice site of intron 24 resulting in exon 25 skipping of PKD1. RNA studies have not been conducted to confirm this prediction. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as a VARIANT OF UNCERTAIN SIGNIFICANCE. Following criteria are met: PM2_Supporting, PP3