ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) (rs61760163)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000170374 SCV000222789 uncertain significance not specified 2014-01-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724215 SCV000224776 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515272 SCV000611388 uncertain significance DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome; Age-related macular degeneration 5; Premature ovarian failure 11 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000724215 SCV000572239 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing The R666C variant in the ERCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R666C variant is observed in 44/11568 (0.4%) alleles from individuals of Latino background, including one homozygous individual in the ExAC dataset (Lek et al., 2016). The R666C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R666C as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000170374 SCV000247316 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384253 SCV000362904 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289884 SCV000362905 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000344840 SCV000362906 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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