ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)

dbSNP: rs2151710347
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001726706 SCV001961028 pathogenic Polycystic kidney disease, adult type 2021-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039992 SCV005006684 pathogenic Inborn genetic diseases 2024-01-08 criteria provided, single submitter clinical testing The c.10538dupA (p.R3514Efs*112) alteration, located in exon 35 (coding exon 35) of the PKD1 gene, consists of a duplication of A at position 10538, causing a translational frameshift with a predicted alternate stop codon after 112 amino acids. 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). Based on the available evidence, this alteration is classified as pathogenic.

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