ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8791+40_10050+3del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357335 SCV001552779 pathogenic Autosomal dominant polycystic kidney disease no assertion criteria provided clinical testing The PKD1 c.6468-?_10050+?del variant (chr16.GRCh7/hg19.g. 2149645-?_2158700+?del) results in a deletion of exons 15_30, although the precise breakpoints of this deletion were not determined, nor were the effects of this variant on the resulting mRNA or protein product determined. The variant was not identified in the literature nor in the dbSNP, NHLBI Exome Sequencing Project, Exome Aggregation Consortium, the 100 Genomes Project, Clinvitae, ClinVar, GeneInsight COGR, MutDB, ADPKD Mutation Database, PKD1-LOVD, and PKD1-LOVD 3.0 databases. This variant is predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the PKD1 gene are an established mechanism of disease in autosomal dominant polycystic kidney disease and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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