ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.543+4del

gnomAD frequency: 0.00001  dbSNP: rs527236039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244262 SCV001417470 pathogenic not provided 2023-07-30 criteria provided, single submitter clinical testing This variant has been observed in individuals with Cockayne syndrome (PMID: 25251875, 29572252). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Experimental studies have shown that this variant affects ERCC6 function (PMID: 25251875). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 143186). This variant is present in population databases (rs527236039, gnomAD 0.0009%). This sequence change falls in intron 3 of the ERCC6 gene. It does not directly change the encoded amino acid sequence of the ERCC6 protein. It affects a nucleotide within the consensus splice site.
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000132720 SCV000187649 pathogenic Cockayne syndrome type 2 no assertion criteria provided not provided Converted during submission to Pathogenic.

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