Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centogene AG - |
RCV001251155 | SCV001426554 | likely pathogenic | Autosomal recessive Alport syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001879815 | SCV002233091 | pathogenic | not provided | 2021-10-04 | 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: 974869). This premature translational stop signal has been observed in individual(s) with Alport syndrome (PMID: 32860008). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser102Leufs*51) 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). |