ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.1723-1G>A (rs1596582948)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992564 SCV001144963 pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002438 SCV001160375 pathogenic Polycystic kidney disease, adult type 2019-03-07 criteria provided, single submitter clinical testing The PKD1 c.1723-1G>A variant has been described in association with autosomal dominant polycystic kidney disease (ADPKD; Truscott 2017). It is absent from general population databases (Exome Variant Server and Genome Aggregation Database), indicating it is not a common polymorphism. This variant abolishes the canonical splice acceptor site of intron 8, which is likely to disrupt gene function. Additionally, another variant that abolishes this canonical splice acceptor site (c.1723-2A>C) has been described in an individual with ADPKD and is considered pathogenic (Audrezet 2012). Based on available information, the c.1723-1G>A variant is considered pathogenic. REFERENCES Audrezet M et al. Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat. 2012 Aug;33(8):1239-50. Truscott L et al. Novel association of familial testicular germ cell tumor and autosomal dominant polycystic kidney disease with PKD1 mutation. Pediatr Blood Cancer. 2017 Jan;64(1):100-102.

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