ClinVar Miner

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

gnomAD frequency: 0.00025  dbSNP: rs185142838
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Total submissions: 9
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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 type 2 2017-11-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) 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 type 2 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000733375 SCV001219828 pathogenic not provided 2024-01-02 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. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). This variant is present in population databases (rs185142838, gnomAD 0.1%). This premature translational stop signal has been observed in individuals with clinical features of Cockayne and Cerebrooculofacioskeletal syndrome (PMID: 19894250, 20456449, 29572252). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 31578). 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].
GeneDx RCV000733375 SCV003918492 pathogenic not provided 2022-10-10 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 19894250, 32453336, 29572252, 27004399, 23311583, 20456449)
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 type 2 no assertion criteria provided clinical testing

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