ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) (rs764397417)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668673 SCV000793311 likely pathogenic Ellis-van Creveld syndrome 2017-08-10 criteria provided, single submitter clinical testing
Invitae RCV001047674 SCV001211651 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu560*) in the EVC gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764397417, ExAC 0.009%). This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 19810119, 29229899). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553266). 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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