ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.551-1G>A

dbSNP: rs1554073316
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674856 SCV000800258 pathogenic Cockayne syndrome type 1 2018-05-29 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000674856 SCV004045934 pathogenic Cockayne syndrome type 1 2023-04-11 criteria provided, single submitter clinical testing
GeneDx RCV004702307 SCV005202100 pathogenic not provided 2023-08-09 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect and show that this variant results in a new 28 amino acid C-terminus and premature termination of the CSA protein (Kleppa et al., 2007); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Also known as IVS6-1G>A; This variant is associated with the following publications: (PMID: 25525159, 19894250, 33726816, 17084038)

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