ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.2060C>T (p.Ser687Leu)

gnomAD frequency: 0.00003  dbSNP: rs1026438103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667893 SCV000792405 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861762 SCV002233556 pathogenic not provided 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 552600). This missense change has been observed in individual(s) with Cockayne syndrome (PMID: 19894250, 27004399, 29572252). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 687 of the ERCC6 protein (p.Ser687Leu).
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001255758 SCV001432349 pathogenic Cockayne syndrome type 2 no assertion criteria provided clinical testing

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