Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382249 | SCV001580928 | pathogenic | not provided | 2021-01-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 10862091). This variant has been observed in individual(s) with clinical features of Alport syndrome (PMID: 10862091, Invitae). This variant is also known as 3657-9A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 24633). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 38 of the COL4A5 gene. It does not directly change the encoded amino acid sequence of the COL4A5 protein. |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV003338386 | SCV004046960 | pathogenic | X-linked Alport syndrome | criteria provided, single submitter | clinical testing | The COL4A5 c.3455-9A>G variant has been reported in hemizygous state in individuals affected with Alport syndrome (Martin P et al.). Experimental studies have shown that this variant disrupts mRNA splicing (Martin P et al). The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic. This sequence change falls in intron 38 of the COL4A5 gene. For these reasons, this variant has been classified as Pathogenic. |