Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV002493508 | SCV002798229 | likely pathogenic | Autosomal recessive Alport syndrome; Benign familial hematuria | 2021-12-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002541755 | SCV003220433 | pathogenic | not provided | 2023-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the COL4A4 protein in which other variant(s) (p.Arg1682Glyfs*6) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 992428). This premature translational stop signal has been observed in individual(s) with clinical features of COL4A4-related conditions (PMID: 31328266). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1562Metfs*41) in the COL4A4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 129 amino acid(s) of the COL4A4 protein. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001280875 | SCV001468220 | pathogenic | Autosomal recessive Alport syndrome | 2020-02-07 | no assertion criteria provided | clinical testing |