ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.873dup (p.Glu292Ter) (rs527255616)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666798 SCV000791154 pathogenic Ellis-van Creveld syndrome 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000695327 SCV000823819 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu292*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs527255616, ExAC 0.003%). This variant has been reported in individuals affected with Ellis-van Creveld syndrome (PMID: 17024374, 19810119). Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). For these reasons, this variant has been classified as Pathogenic.

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