Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
HSP Biomedical Diagnostics Department, |
RCV001353348 | SCV001548363 | likely pathogenic | X-linked Alport syndrome | 2017-12-26 | no assertion criteria provided | clinical testing | The c.671G>T variant, located in coding exon 12 of the COL4A5 gene (NM_000495.5), results from a G to T substitution at nucleotide position 671. The glycine at codon 224 is replaced by valine p.Gly224Val. This alteration has not been reported previously in the literature and it is not detected in general population. The variant is found in a region of the protein where more than 93% of amino acid changes are considered pathological. Therefore, the clinical significance of the c.671G>T variant is likely pathogenic. |