Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002552019 | SCV003472742 | uncertain significance | not provided | 2022-03-13 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 32 of the COL4A4 gene. It does not directly change the encoded amino acid sequence of the COL4A4 protein. 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: 829841). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Prevention |
RCV003396620 | SCV004104407 | uncertain significance | COL4A4-related condition | 2022-12-08 | criteria provided, single submitter | clinical testing | The COL4A4 c.2969-10A>G variant is predicted to interfere with splicing. This variant is predicted to abolish the canonical splice acceptor site and activate a cryptic donor site 9 nucleotides upstream which could possibly result in insertion of 3 amino acids. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV001029780 | SCV001192558 | uncertain significance | Autosomal dominant Alport syndrome | 2019-04-25 | no assertion criteria provided | clinical testing |