Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003448718 | SCV004176366 | likely pathogenic | X-linked Alport syndrome | 2023-02-14 | criteria provided, single submitter | clinical testing | The invariant splice acceptor c.2396-1G>A variant in COL4A5 gene has been reported previously in hemizygous state in an individual affected Alport syndrome (Beicht et al. 2013). The c.2396-1G>A variant is novel (not in any individuals) in both gnomAD Exomes and 1000 Genomes databases. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |