ClinVar Miner

Submissions for variant NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter)

dbSNP: rs121917902
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Claritas Genomics RCV000001772 SCV000222780 pathogenic Cockayne syndrome type 2 2013-07-29 criteria provided, single submitter clinical testing
Counsyl RCV000669858 SCV000794650 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 2017-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763212 SCV000893837 pathogenic DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11 2018-10-31 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000001772 SCV001451945 pathogenic Cockayne syndrome type 2 criteria provided, single submitter research
Invitae RCV001384070 SCV001583449 pathogenic not provided 2024-01-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg453*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Cockayne syndrome (PMID: 9443879, 29572252). ClinVar contains an entry for this variant (Variation ID: 1703). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001772 SCV000021928 pathogenic Cockayne syndrome type 2 1999-05-01 no assertion criteria provided literature only

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