ClinVar Miner

Submissions for variant NM_000082.4(ERCC8):c.562_564del (p.Glu188del)

dbSNP: rs1404307838
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672650 SCV000797776 uncertain significance Cockayne syndrome type 1 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532132 SCV002940318 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 556621). This variant has not been reported in the literature in individuals affected with ERCC8-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.562_564del, results in the deletion of 1 amino acid(s) of the ERCC8 protein (p.Glu188del), but otherwise preserves the integrity of the reading frame.

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