Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264072 | SCV001442172 | likely pathogenic | X-linked Alport syndrome | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001388175 | SCV001589047 | pathogenic | not provided | 2022-06-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 984067). A different variant (c.4614G>A) giving rise to the same protein effect has been determined to be pathogenic (PMID: 8940267, 30691124). This suggests that this variant is also likely to be causative of disease. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1538*) in the COL4A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL4A5 are known to be pathogenic (PMID: 9195222, 10752524, 14514738, 24854265, 26809805). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001264072 | SCV002787465 | pathogenic | X-linked Alport syndrome | 2021-10-21 | criteria provided, single submitter | clinical testing |