ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) (rs185142838)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622864 SCV000742719 pathogenic Inborn genetic diseases 2017-07-03 criteria provided, single submitter clinical testing
Counsyl RCV000671085 SCV000796027 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome B 2017-11-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733375 SCV000861440 pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784896 SCV000923433 pathogenic Cockayne syndrome B 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000733375 SCV001219828 pathogenic not provided 2020-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1288*) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs185142838, ExAC 0.09%). This variant has been observed to segregate with clinical features of Cockayne and Cerebrooculofacioskeletal syndrome in a family and has been observed in individuals with this condition (PMID: 20456449, 29572252, 19894250). ClinVar contains an entry for this variant (Variation ID: 31578). Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 9443879, 18628313). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000024284 SCV001522601 pathogenic Cerebrooculofacioskeletal syndrome 1 2020-06-09 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000024284 SCV000045575 pathogenic Cerebrooculofacioskeletal syndrome 1 2010-12-01 no assertion criteria provided literature only
Service de Génétique Moléculaire,Hôpital Robert Debré RCV000784896 SCV001432393 pathogenic Cockayne syndrome B no assertion criteria provided clinical testing

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