Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001388586 | SCV001589638 | pathogenic | not provided | 2023-08-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Alport syndrome and thin basement membrane nephropathy (PMID: 25307543). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Lys34Leufs*2) 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). |
Fulgent Genetics, |
RCV002499809 | SCV002811143 | pathogenic | Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-08-15 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001826180 | SCV002076368 | pathogenic | Alport syndrome | 2020-10-06 | no assertion criteria provided | clinical testing |