ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg) (rs368728467)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195010 SCV000247317 pathogenic Cockayne syndrome B 2015-02-24 criteria provided, single submitter clinical testing
Counsyl RCV000675120 SCV000800674 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2018-03-20 criteria provided, single submitter clinical testing
Invitae RCV001063571 SCV001228424 likely pathogenic not provided 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 851 of the ERCC6 protein (p.Trp851Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Cockayne syndrome or ataxia-related phenotype (PMID: 29572252, 9443879, 29915382). ClinVar contains an entry for this variant (Variation ID: 210955). This variant has been reported to affect ERCC6 protein function (PMID: 29203878, 9443879, 20122405, 25820262). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City RCV000195010 SCV001132911 pathogenic Cockayne syndrome B 2019-08-25 no assertion criteria provided clinical testing

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