ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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
Fulgent Genetics,Fulgent Genetics RCV000762811 SCV000893162 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B; Lung cancer; UV-sensitive syndrome 1; Age-related macular degeneration 5; Premature ovarian failure 11 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000494216 SCV001211290 pathogenic not provided 2019-06-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg612*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs376526037, ExAC 0.01%). This variant has been observed in combination with another ERCC6 variant in a family affected with Cockayne disease (PMID: 28440418). ClinVar contains an entry for this variant (Variation ID: 430298). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000664544 SCV000788526 likely pathogenic DE SANCTIS-CACCHIONE SYNDROME 2017-11-13 no assertion criteria provided clinical testing

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