ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)

dbSNP: rs1320867301
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research RCV001249150 SCV001422413 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481603 SCV002782044 likely pathogenic Polycystic kidney disease, adult type 2024-05-18 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502935 SCV000592764 uncertain significance Polycystic kidney disease no assertion criteria provided clinical testing The PKD1, p.Phe1146del variant was not identified in the literature nor was it identified in the dbSNP, Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0, NHLBI GO Exome Sequencing Project and the Exome Aggregation Consortium databases. This variant is an in-frame deletion resulting in the removal of a Phenylalanine residue at codon 1146; the impact of this alteration on PKD1 protein (PC1) function is not known. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing; this is not very predictive of pathogenicity. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001249150 SCV001977830 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001249150 SCV001979427 uncertain significance not provided no assertion criteria provided clinical testing

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