ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1694del (p.Ala565fs) (rs753014919)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666228 SCV000790485 pathogenic Chondroectodermal dysplasia 2017-04-04 criteria provided, single submitter clinical testing
Invitae RCV000804230 SCV000944127 pathogenic Chondroectodermal dysplasia; Curry-Hall syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala565Valfs*23) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs753014919, ExAC 0.007%). This variant has been observed in combination with another EVC variant in individuals affected with Ellis-van Creveld syndrome (PMID: 17024374, 23220543). ClinVar contains an entry for this variant (Variation ID: 551227). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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