ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.173+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1476095782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670075 SCV000794890 likely pathogenic Cockayne syndrome type 1 2017-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001376989 SCV001574205 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 (no rsID available, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with clinical features of Cockayne syndrome (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 554440). 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.
Revvity Omics, Revvity RCV001376989 SCV004238176 likely pathogenic not provided 2023-05-04 criteria provided, single submitter clinical testing

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