ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.2562-3_2584del

dbSNP: rs1577663625
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824617 SCV000965522 likely pathogenic Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-01-29 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 18 (c.2562-3_2584del) of the EVC gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EVC are known to be pathogenic (PMID: 23220543). This variant is not present in population databases (gnomAD no frequency). 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: 666179). 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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