Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264070 | SCV001442170 | likely pathogenic | X-linked Alport syndrome | 2019-12-23 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV001264070 | SCV004101661 | likely pathogenic | X-linked Alport syndrome | 2023-10-18 | criteria provided, single submitter | clinical testing | The identified hemizygous nonsense substitution (p.Lys1341Ter) lies in exon 44 of the COL4A5 gene and is predicted to cause premature termination of the protein. The variant c.4021A>T (p.Lys1341Ter) has not been found in 1000 genomes and gnomad databases. The in silico prediction of the variant are probably damaging by LRT and FATHMM-MKL. In summary, the variant meets our criteria to be classified as likely pathogenic. |