ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) (rs61760166)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513602 SCV000608537 uncertain significance not provided 2017-05-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513602 SCV000343228 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
GeneDx RCV000513602 SCV000572273 uncertain significance not provided 2018-11-05 criteria provided, single submitter clinical testing The F1217C variant in the ERCC6 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. Although not present in the homozygous state in any controls, the F1217C variant is observed in 12/11,578 alleles (0.1%) from individuals of Latino background in the ExAC dataset (Lek et al., 2016). The F1217C 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. In addition, this substitution occurs at a position that is conserved across mammalian species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret F1217C as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000397087 SCV000362767 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307135 SCV000362768 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364264 SCV000362769 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing

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