Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001884197 | SCV002151326 | uncertain significance | Autosomal recessive polycystic kidney disease | 2021-10-18 | 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 create or strengthen a splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with PKHD1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2733_2734insTGCCCAGGTTCAGGT, is a complex sequence change that results in the deletion of 2 and insertion of 5 amino acid(s) in the PKHD1 protein (p.Asn911_Asp912insCysProGlySerGly). |