Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668719 | SCV000793364 | likely pathogenic | Autosomal recessive Alport syndrome | 2017-08-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386039 | SCV001586128 | pathogenic | not provided | 2022-09-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs756133651, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553304). This variant has not been reported in the literature in individuals affected with COL4A3-related conditions. This sequence change creates a premature translational stop signal (p.Arg317Glyfs*8) in the COL4A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A3 are known to be pathogenic (PMID: 8956999, 24854265, 26809805, 27281700). |
Gene |
RCV001386039 | SCV002008851 | likely pathogenic | not provided | 2021-11-01 | 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 at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002477495 | SCV002781181 | likely pathogenic | Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-07-14 | criteria provided, single submitter | clinical testing |