Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415186 | SCV000492888 | likely pathogenic | Cockayne syndrome | 2015-06-22 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196299 | SCV001366885 | likely pathogenic | Cerebrooculofacioskeletal syndrome 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. This variant was detected in homozygous state. |
Invitae | RCV001246234 | SCV001419575 | uncertain significance | not provided | 2021-08-26 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 530 of the ERCC6 protein (p.Leu530Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. ClinVar contains an entry for this variant (Variation ID: 374116). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |