ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.6919dup (p.Glu2307fs)

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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 RCV004961948 SCV005475113 pathogenic Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.6919dupG (p.E2307Gfs*113) alteration, located in exon 16 (coding exon 16) of the PKD1 gene, consists of a duplication of G at position 6919, causing a translational frameshift with a predicted alternate stop codon after 113 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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