Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500198 | SCV000594583 | pathogenic | Cockayne syndrome type 2 | 2015-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527247 | SCV003472744 | pathogenic | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 435083). This premature translational stop signal has been observed in individual(s) with clinical features of ERCC6-related conditions (PMID: 29915382). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp686*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). |
Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV000500198 | SCV004047827 | likely pathogenic | Cockayne syndrome type 2 | criteria provided, single submitter | clinical testing | The stop gain c.2058G>A (p.Trp686Ter) variant in ERCC6 gene has been reported in ClinVar as a pathogenic variant. The variant is novel (not in any individuals) in gnomAD Exomes and in 1000 Genomes. The nucleotide change c.2058G>A in ERCC6 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |