ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.2777_2789del (p.Val926fs)

dbSNP: rs2092590647
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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 RCV001292411 SCV001480814 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Val926Glyfs*21 variant was not identified in the literature nor was it identified in the following databases: dbSNP, ClinVar, LOVD 3.0, ADPKD Mutation Database, PKD1-LOVD, the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). The c.2777_2789del variant is predicted to cause a frameshift, which alters the protein amino acid sequence beginning at codon 926 and leads to a premature stop codon at position 946. This alteration is then 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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