Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672810 | SCV000797954 | likely pathogenic | Autosomal recessive Alport syndrome | 2018-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855584 | SCV002214145 | uncertain significance | not provided | 2022-06-19 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 556759). This variant has been observed in individual(s) with clinical features of Alport syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.1033_1050del, results in the deletion of 6 amino acid(s) of the COL4A4 protein (p.Asp345_Gly350del), but otherwise preserves the integrity of the reading frame. |