ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)

dbSNP: rs2544716328
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003137004 SCV003822896 pathogenic Polycystic kidney disease, adult type 2023-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003368059 SCV004082629 pathogenic Inborn genetic diseases 2023-08-14 criteria provided, single submitter clinical testing The c.9584G>A (p.W3195*) alteration, located in exon 28 (coding exon 28) of the PKD1 gene, consists of a G to A substitution at nucleotide position 9584. This changes the amino acid from a tryptophan (W) to a stop codon at amino acid position 3195. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration has been detected in the heterozygous state in two individuals with clinical features of PKD1-related polycystic kidney disease (Kim, 2021; Obeidova, 2014). A different nucleotide substitution resulting in the same nonsense variant, c.9585G > A (p.W3195*), has also been reported in patients with PKD1-related polycystic kidney disease (Kim, 2019; Neumann, 2013). Based on the available evidence, this alteration is classified as pathogenic.

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