Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000256021 | SCV000322171 | pathogenic | not provided | 2019-06-24 | 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; This variant is associated with the following publications: (PMID: 22190896, 21866095, 20835237, 31844813) |
| Genomic Research Center, |
RCV000625956 | SCV000746554 | pathogenic | Bardet-Biedl syndrome | 2017-12-03 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001056393 | SCV001220834 | pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-01-12 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with Senior-Loken syndrome (PMID: 20835237). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 57). This variant is present in population databases (rs770467138, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Glu474Serfs*20) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896). |
| Fulgent Genetics, |
RCV001056393 | SCV002811456 | likely pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2021-12-04 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000625956 | SCV003922995 | pathogenic | Bardet-Biedl syndrome | 2023-03-03 | criteria provided, single submitter | clinical testing | Variant summary: SDCCAG8 c.1420delG (p.Glu474SerfsX20) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 251312 control chromosomes (gnomAD). c.1420delG has been reported in the literature in multiple individuals affected with nephronophthisis and retinal degeneration (Senior-Loken syndrome), including at least three homozygous individuals from two unrelated families (e.g. Otto_2010, Halbritter_2013, Al Alawi_2019). These data indicate that the variant is very likely to be associated with disease. Four submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic (n=3)/likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic. |
| OMIM | RCV000000074 | SCV000020217 | pathogenic | Senior-Loken syndrome 7 | 2010-10-01 | no assertion criteria provided | literature only |