ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2599-26A>G (rs4253196)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170380 SCV000222796 pathogenic Cockayne syndrome B 2012-04-17 criteria provided, single submitter clinical testing
Counsyl RCV000666576 SCV000790886 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-04-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000170380 SCV000807605 pathogenic Cockayne syndrome B 2017-09-01 criteria provided, single submitter clinical testing This mutation has been previously reported as disease-causing and was found once in our laboratory in trans with another pathogenic mutation in a patient with suspected diagnosis of Cockayne syndrome. Heterozygotes are expected to be asymptomatic carriers.
Invitae RCV001236817 SCV001409554 pathogenic not provided 2019-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 13 of the ERCC6 gene. It does not directly change the encoded amino acid sequence of the ERCC6 protein. This variant is present in population databases (rs4253196, ExAC 0.003%). This variant has been observed in individuals with Cockayne syndrome (PMID: 19894250, 27004399, 29572252). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 190162). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9443879, 29572252). For these reasons, this variant has been classified as Pathogenic.

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