ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)

dbSNP: rs1567186165
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000763372 SCV000894068 pathogenic Polycystic kidney disease, adult type 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000681758 SCV003921649 pathogenic not provided 2022-11-02 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30586318)
Gharavi Laboratory, Columbia University RCV000681758 SCV000809216 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001292529 SCV001480713 pathogenic Polycystic kidney disease no assertion criteria provided clinical testing The PKD1 p.Gly2443X variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, Genesight-COGR, LOVD 3.0, ADPKD Mutation Database, PKD1-LOVD, databases. The variant was not identified in the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project or the Exome Aggregation Consortium (August 8th 2016) control databases. The p.Gly2443X variant leads to a premature stop codon at position 2443, which is predicted to lead to 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 is classified as pathogenic.

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