Submissions for variant NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Iowa Renal Genetics Clinic, University of Iowa	RCV002468949	SCV002605547	uncertain significance	Polycystic kidney disease, adult type	2020-05-06	criteria provided, single submitter	clinical testing	One variant of uncertain significance was identified in the PKD1 gene (c.1991C>T, p.Ala664Val). This variant affects an exonic splicing enhancer and could potentially activate an exonic cryptic donor site altering splicing (Variation +46.96% [Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 2009;37(9)]). This variant has not been reported by the Genome Aggregation Database and is predicted to be pathogenic by 1 of 4 pathogenicity methods (PhyloP, SIFT, LRT, Polyphen HDIV, Mutation Taster, and GERP).
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research	RCV003229573	SCV002756455	likely pathogenic	Autosomal dominant polycystic kidney disease	2022-11-20	criteria provided, single submitter	research
Fulgent Genetics, Fulgent Genetics	RCV002468949	SCV005643165	likely pathogenic	Polycystic kidney disease, adult type	2024-05-07	criteria provided, single submitter	clinical testing