Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555382 | SCV000658971 | pathogenic | Autosomal dominant polycystic kidney disease | 2023-11-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala69Glyfs*23) in the PKD2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PKD2 are known to be pathogenic (PMID: 17582161, 22863349). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal dominant polycystic kidney disease (PMID: 10411676, 18837007, 22508176). This variant is also known as 198insC. ClinVar contains an entry for this variant (Variation ID: 477627). For these reasons, this variant has been classified as Pathogenic. |
Molecular Genetics of Inherited Kidney Disorders Laboratory, |
RCV000555382 | SCV001430257 | pathogenic | Autosomal dominant polycystic kidney disease | 2019-01-01 | criteria provided, single submitter | research | |
Gene |
RCV000681716 | SCV001801842 | pathogenic | not provided | 2022-02-08 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22508176, 10411676, 14993477, 18837007, 29633482, 33437033, 34101167) |
Athena Diagnostics Inc | RCV000681716 | SCV001879470 | pathogenic | not provided | 2021-01-21 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In some published literature, this variant is referred to as 198insC. This variant has been identified in multiple unrelated individuals with clinical features associated with this gene. |
MGZ Medical Genetics Center | RCV002289770 | SCV002580810 | pathogenic | Polycystic kidney disease 2 | 2022-01-24 | criteria provided, single submitter | clinical testing | |
OMIM | RCV002289770 | SCV000034729 | pathogenic | Polycystic kidney disease 2 | 1999-03-01 | no assertion criteria provided | literature only | |
Gharavi Laboratory, |
RCV000681716 | SCV000809169 | pathogenic | not provided | 2018-09-16 | no assertion criteria provided | research |