ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10233G>A (p.Trp3411Ter)

dbSNP: rs1300254603
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003389367 SCV004101465 likely pathogenic Polycystic kidney disease, adult type criteria provided, single submitter clinical testing The stop gained p.W3411* in PKD1 (NM_001009944.3) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is novel (not in any individuals) in gnomAD Exomes. The p.W3411* variant is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. The p.W3411* variant is a loss of function variant in the gene PKD1, which is intolerant of Loss of Function variants. The nucleotide change in PKD1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Likely Pathogenic.

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