ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2677_2688+7del

dbSNP: rs2152387946
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001378553 SCV001576142 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-05-15 criteria provided, single submitter clinical testing Loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EVC-related conditions. This variant results in the deletion of part of exon 18 (c.2677_2688+7del) of the EVC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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