ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.829C>T (p.Gln277Ter)

dbSNP: rs1251648799
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001204407 SCV001375613 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-11-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln277*) in the EVC gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 23220543). This variant is not present in population databases (ExAC no frequency).

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