Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003371340 | SCV004084504 | pathogenic | Inborn genetic diseases | 2023-07-20 | criteria provided, single submitter | clinical testing | The c.2414delG (p.G805Afs*93) alteration, located in exon 11 (coding exon 11) of the PKD1 gene, consists of a deletion of one nucleotide at position 2414, causing a translational frameshift with a predicted alternate stop codon after 93 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005406671 | SCV006070709 | pathogenic | Polycystic kidney disease, adult type | 2025-03-04 | criteria provided, single submitter | clinical testing | Variant summary: PKD1 c.2414delG (p.Gly805AlafsX93) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 194228 control chromosomes. To our knowledge, no occurrence of c.2414delG in individuals affected with Polycystic Kidney Disease 1 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 2612189). Based on the evidence outlined above, the variant was classified as pathogenic. |