Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000757636 | SCV000885936 | uncertain significance | not provided | 2017-10-17 | criteria provided, single submitter | clinical testing | |
| Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV001254294 | SCV001430196 | likely pathogenic | Autosomal dominant polycystic kidney disease | 2019-01-01 | criteria provided, single submitter | research | |
| Athena Diagnostics | RCV000757636 | SCV001476599 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000757636 | SCV003929770 | uncertain significance | not provided | 2024-02-09 | criteria provided, single submitter | clinical testing | Reported with additional PKD1 variants in patient with in published literature; the authors propose all three PKD1 variants are on the same allele (in cis) (Xue et al., 2022); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22383692, 33437033, Xue2022[abstract]) |
| Department of Pathology and Laboratory Medicine, |
RCV001292068 | SCV001480783 | uncertain significance | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 p.Gly960Asp variant was identified in 1 of 460 proband chromosomes (frequency: 0.002) from individuals or families with ADPKD (Rossetti 2012). The variant was also identified in ADPKD Mutation Database (as likely pathogenic) but was not identified in dbSNP, ClinVar, GeneInsight-COGR, or LOVD 3.0, PKD1-LOVD databases. The variant was not identified in the following control databases: the 1000 Genomes Project, the NHLBI GO Exome Sequencing Project, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Gly960 residue is conserved across mammals and other organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD, BLOSUM, MutationTaster) suggest that the variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance. |