ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.871-2_894del (rs755789146)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669317 SCV000794059 likely pathogenic Ellis-van Creveld syndrome 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV001052473 SCV001216685 pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2020-01-07 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 8 (c.871-2_894del) of the EVC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with Ellis-van Creveld syndrome (PMID: 21199751). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 553798). 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. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). For these reasons, this variant has been classified as Pathogenic.

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