ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)

dbSNP: rs751292948
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500198 SCV000594583 pathogenic Cockayne syndrome type 2 2015-10-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527247 SCV003472744 pathogenic not provided 2024-08-12 criteria provided, single submitter clinical testing 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ERCC6-related conditions (PMID: 29915382). ClinVar contains an entry for this variant (Variation ID: 435083). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM 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.

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