ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.850G>T (p.Glu284Ter)

dbSNP: rs2132621608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV002237201 SCV002507306 pathogenic Cockayne syndrome type 2 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003120845 SCV003786504 pathogenic not provided 2022-02-12 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of Cockayne syndrome (PMID: 30842647). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu284*) 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).

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