ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000513602 SCV000343228 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397087 SCV000362767 uncertain significance Age-related macular degeneration 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000307135 SCV000362768 uncertain significance Cerebrooculofacioskeletal syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000364264 SCV000362769 uncertain significance Cockayne syndrome B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000513602 SCV000572273 uncertain significance not provided 2021-05-24 criteria provided, single submitter clinical testing Has been reported in one patient with peripheral neuropathy associated with oxaliplatin (PNAO); this patient harbored a second missense variant in ERCC6 but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (West et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513602 SCV000608537 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Invitae RCV000513602 SCV001015069 likely benign not provided 2020-12-08 criteria provided, single submitter clinical testing
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000364264 SCV001775515 uncertain significance Cockayne syndrome B 2021-03-17 criteria provided, single submitter clinical testing

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