Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992548 | SCV001144945 | pathogenic | not provided | 2018-09-27 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, but the area has low coverage or is a low quality site (0/30896 chr). Found in at least one symptomatic patient. Predicted to negatively affect a known splice site. Damaging to protein function(s) relevant to disease mechanism. Moderate co-segregation with disease. However, available data are from a single family and lack unaffected family members. |
| Gene |
RCV000992548 | SCV002521986 | likely pathogenic | not provided | 2022-05-18 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate this variant leads to skipping of exon 38 and creates additional product from IVS37 (Rossetti et al., 2007); Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 25333066, 10987650, 17582161, 22508176, 29633482, 10923038, 17574468, 29529603, 35368817) |
| Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV003229566 | SCV002756454 | likely pathogenic | Autosomal dominant polycystic kidney disease | 2022-11-20 | criteria provided, single submitter | research | |
| Fulgent Genetics, |
RCV002497287 | SCV002813244 | likely pathogenic | Polycystic kidney disease, adult type | 2021-10-01 | criteria provided, single submitter | clinical testing | |
| Department of Pathology and Laboratory Medicine, |
RCV001292441 | SCV001480937 | likely pathogenic | Polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 c.11017-10C>A variant was identified in 10 of 3824 proband chromosomes (frequency: 0.003) from individuals or families with autosomal dominant polycystic kidney disease (AD-PKD) and was not identified in 150 control chromosomes from healthy individuals (Audrezet 2012, Bogdanova 2000, Carrera 2016, Garcia-Gonzalez 2007, Perrichot 1999, Rossetti 2007, Xu 2018). Two studies found the variant to segregate with disease in affected family members (Perrichot 1999, Bogdanova 2000). The variant was also identified in the ADPKD Mutation Database (classified as highly likely pathogenic). The variant was not identified in dbSNP, ClinVar, LOVD 3.0, or PKD1-LOVD. The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016) or the Genome Aggregation Database (Feb 27, 2017). An RT-PCR assay showed this variant resulted in skipping of exon 38 as well a product that included the final 180bp of intron 37 (Rossetti 2007). In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more pathogenic role for this variant. This variant is classified as likely pathogenic. |