ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.1777-1G>A (rs1262933856)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670126 SCV000794943 likely pathogenic Ellis-van Creveld syndrome 2017-10-19 criteria provided, single submitter clinical testing
Invitae RCV001038169 SCV001201625 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the EVC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Ellis-van Creveld syndrome (PMID: 23220543). ClinVar contains an entry for this variant (Variation ID: 554484). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and 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.

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