Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003221780 | SCV003918499 | pathogenic | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | Nonsense 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 31456290, 16380913) |
Baylor Genetics | RCV000002779 | SCV004214197 | pathogenic | Bardet-Biedl syndrome 9 | 2023-09-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001002885 | SCV004613869 | pathogenic | Bardet-Biedl syndrome | 2023-02-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2660). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16380913, 31456290). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln355*) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913, 20177705). |
OMIM | RCV000002779 | SCV000022937 | pathogenic | Bardet-Biedl syndrome 9 | 2005-12-01 | no assertion criteria provided | literature only | |
Sharon lab, |
RCV001002885 | SCV001160918 | pathogenic | Bardet-Biedl syndrome | 2019-06-23 | no assertion criteria provided | research |