ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.229-2A>G (rs769799880)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668452 SCV000793058 likely pathogenic Ellis-van Creveld syndrome 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001213458 SCV001385090 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-06-16 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 1 of the EVC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs769799880, ExAC 0.03%). This variant has not been reported in the literature in individuals with EVC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 553077). 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). 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.

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