ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.543+4del (rs527236039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001244262 SCV001417470 pathogenic not provided 2019-10-28 criteria provided, single submitter clinical testing 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, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs527236039, ExAC 0.003%). This variant has been observed to segregate with Cockayne syndrome in a family and has been observed in individuals affected with Cockayne syndrome (PMID: 25251875, 29572252). ClinVar contains an entry for this variant (Variation ID: 143186). This variant has been reported to affect ERCC6 protein function (PMID: 25251875). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 25251875). For these reasons, this variant has been classified as Pathogenic.
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000132720 SCV000187649 pathogenic Cockayne syndrome B no assertion criteria provided not provided Converted during submission to Pathogenic.

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