Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics, |
RCV003994726 | SCV004812759 | likely pathogenic | Polycystic kidney disease 4 | 2024-04-07 | criteria provided, single submitter | clinical testing | This sequence change in PKHD1 is a frameshift variant predicted to cause a premature stop codon, p.(Ser3718Argfs*17), in biologically relevant exon 62/66 leading to nonsense-mediated decay in a gene in which loss-of-function is an established disease mechanism (PMID: 11919560, 12506140, 20301501). This variant is absent from the population database gnomAD v4.0. To our knowledge, this variant is novel and has not been previously reported in the relevant scientific literature or databases. Based on the classification scheme RMH Modified ACMG/AMP Guidelines v1.6.1, this variant is classified as LIKELY PATHOGENIC. Following criteria are met: PVS1, PM2_Supporting. |