ClinVar Miner

Submissions for variant NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) (rs139007661)

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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 RCV000170382 SCV000222799 uncertain significance not specified 2014-01-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724216 SCV000226717 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing
Fulgent Genetics RCV000515412 SCV000611389 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 RCV000724216 SCV000572238 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing The Q1041P variant in the ERCC6 gene was reported as a rare variant in a targeted exon sequencing study investigating the role of rare variants in age-related macular degeneration (AMD) risk. The Q1041P variant was identified in individuals with AMD as well as control individuals and was not attributed to the affected individuals' phenotypes (Seddon et al., 2013). The Q1041P variant is observed in 44/11578 (0.4%) alleles from individuals of Latino background, including one homozygous individual, in the ExAC dataset (Lek et al., 2016). The Q1041P 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 not conserved and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret Q1041P as a variant of uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000170382 SCV000247318 uncertain significance not specified 2014-06-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358951 SCV000362812 likely benign Cerebrooculofacioskeletal Syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266566 SCV000362813 likely benign Cockayne syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323987 SCV000362814 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing

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