Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002523844 | SCV003006777 | pathogenic | not provided | 2021-12-18 | 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: 369965). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 29854973). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1082Glufs*71) 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). |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000408858 | SCV000484948 | pathogenic | Autosomal dominant Alport syndrome | no assertion criteria provided | clinical testing |