Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Services |
RCV003482208 | SCV004227991 | uncertain significance | Polycystic kidney disease 4 | 2024-01-02 | criteria provided, single submitter | clinical testing | The c.9974_9976del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been published in literature with PKHD1-related conditions nor reported to any clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, etc predicted this variant to be likely deleterious, however these predictions were not confirmed by published functional studies. This variant is located in a non-repeat region of the gene and causes in-frame deletion of a single amino acid that changes protein coding length. |