ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)

dbSNP: rs2544599759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002837443 SCV003625030 pathogenic Inborn genetic diseases 2022-06-02 criteria provided, single submitter clinical testing The c.11775dupG (p.R3926Afs*34) alteration, located in exon 43 (coding exon 43) of the PKD1 gene, consists of a duplication of G at position 11775, causing a translational frameshift with a predicted alternate stop codon after 34 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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