ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) (rs376526037)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622933 SCV000742728 pathogenic Inborn genetic diseases 2017-07-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Counsyl RCV000664544 SCV000788526 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebro-oculo-facio-skeletal syndrome; Cockayne syndrome B 2017-11-13 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762811 SCV000893162 pathogenic 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 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000494216 SCV000583072 pathogenic not provided 2017-05-17 criteria provided, single submitter clinical testing The R612X variant in the ERCC6 gene has been reported previously in association with Cockayne syndrome (Calmels et al., 2016; He et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R612X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Based on currently available evidence, we interpret R612X as a pathogenic variant.

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