ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2782+1del

dbSNP: rs1169539647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673841 SCV000799089 likely pathogenic Ellis-van Creveld syndrome 2018-04-05 criteria provided, single submitter clinical testing
Invitae RCV001387632 SCV001588304 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2023-11-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) in the EVC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. ClinVar contains an entry for this variant (Variation ID: 557670). 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.

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