ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.618-1G>A

gnomAD frequency: 0.00001  dbSNP: rs201464610
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001281593 SCV001468917 pathogenic not provided criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001281593 SCV001590171 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the ERCC8 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ERCC8 are known to be pathogenic (PMID: 29572252). This variant is present in population databases (rs201464610, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with Cockayne syndrome (PMID: 16865293, 29422660). ClinVar contains an entry for this variant (Variation ID: 551068). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV000666033 SCV002060172 pathogenic Cockayne syndrome type 1 2021-11-03 criteria provided, single submitter clinical testing NM_000082.3(ERCC8):c.618-1G>A is a canonical splice variant classified as pathogenic in the context of ERCC8-related disorders. c.618-1G>A has been observed in cases with relevant disease (PMID: 32557569, 27004399, 16865293). Functional assessments of this variant are not available in the literature. c.618-1G>A has been observed in population frequency databases (gnomAD: NFE 0.003%). In summary, NM_000082.3(ERCC8):c.618-1G>A is a canonical splice variant in a gene where loss of function is a known mechanism of disease, is predicted to disrupt protein function, and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Revvity Omics, Revvity RCV001281593 SCV004235177 pathogenic not provided 2023-03-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005034240 SCV005673543 pathogenic Cockayne syndrome type 1; UV-sensitive syndrome 2 2024-03-12 criteria provided, single submitter clinical testing

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