Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV001251469 | SCV001427171 | pathogenic | X-linked Alport syndrome | 2019-01-07 | criteria provided, single submitter | clinical testing | A hemizygous frameshift deletion variant, NM_000495.4(COL4A5):c.4101_4108del, has been identified in exon 45 of 51 of the COL4A5 gene. This deletion is predicted to create a frameshift starting at amino acid position 1367, introducing a stop codon 3 residues downstream (NP_000486.1(COL4A5):p.(Gln1367Hisfs*3)). This variant is predicted to result in loss of protein function through nonsense-mediated decay, which is a reported mechanism of pathogenicity for this gene. This variant has not been previously reported in clinical cases. Many upstream and downstream variants resulting in a premature termination codon have been reported in patients with Alport syndrome (ClinVar). Based on the information available at the time of curation, this variant has been classified as PATHOGENIC. |