Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV001536103 | SCV001752815 | pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV002307751 | SCV002604563 | likely pathogenic | Autosomal recessive Alport syndrome | 2022-03-15 | criteria provided, single submitter | clinical testing | NM_000092.4(COL4A4):c.1785dupA(G596Rfs*10) is expected to be pathogenic in the context of COL4A4-related Alport syndrome. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in COL4A4, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |
Labcorp Genetics |
RCV003688941 | SCV004435644 | pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly596Argfs*10) in the COL4A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A4 are known to be pathogenic (PMID: 21196518, 24854265, 25307543). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with COL4A4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1179194). For these reasons, this variant has been classified as Pathogenic. |